Salvatore Spina, MD, PhD

Associate Professor
Fields of Interest: 

Dr. Spina received his medical degree from the University of Catania, Italy. He completed a neurology residency at the University of Siena, Italy from which he also obtained his doctorate degree on mechanisms of neurodegeneration. He was trained in neuropathology of dementia syndromes at the Indiana Alzheimer Disease Center, Indianapolis in the laboratory of Dr. Bernardino Ghetti. Later, he completed an internship in internal medicine and a neurology residency at Indiana University. Dr. Spina’s research focuses on the clinicopathologic and genetic correlations in neurodegenerative dementia syndromes, with a special interest on frontotemporal lobar degeneration.

Publications: 

Comorbid neuropathology and atypical presentation of Alzheimer's disease.

Alzheimer's & dementia (Amsterdam, Netherlands)

Pina-Escudero SD, La Joie R, Spina S, Hwang JH, Miller ZA, Huang EJ, Grant H, Mundada NS, Boxer AL, Gorno-Tempini ML, Rosen HJ, Kramer JH, Miller BL, Seeley WW, Rabinovici GD, Grinberg LT

CSF Proteomics in Patients With Progressive Supranuclear Palsy.

Neurology

Wise A, Li J, Yamakawa M, Loureiro J, Peterson B, Worringer K, Sivasankaran R, Palma JA, Mitic L, Heuer HW, Lario-Lago A, Staffaroni AM, Clark A, Taylor J, Ljubenkov PA, Vandevrede L, Grinberg LT, Spina S, Seeley WW, Miller BL, Boeve BF, Dickerson BC, Grossman M, Litvan I, Pantelyat A, Tartaglia MC, Zhang Z, Wills AA, Rexach J, Rojas JC, Boxer AL, as the 4-Repeat Tauopathy Neuroimaging Initiative

Frontotemporal lobar degeneration targets brain regions linked to expression of recently evolved genes.

Brain : a journal of neurology

Pasquini L, Pereira FL, Seddighi S, Zeng Y, Wei Y, Illán-Gala I, Vatsavayai SC, Friedberg A, Lee AJ, Brown JA, Spina S, Grinberg LT, Sirkis DW, Bonham LW, Yokoyama JS, Boxer AL, Kramer JH, Rosen HJ, Humphrey J, Gitler AD, Miller BL, Pollard KS, Ward ME, Seeley WW

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing.

medRxiv : the preprint server for health sciences

Pottier C, Küçükali F, Baker M, Batzler A, Jenkins GD, van Blitterswijk M, Vicente CT, De Coster W, Wynants S, Van de Walle P, Ross OA, Murray ME, Faura J, Haggarty SJ, van Rooij JG, Mol MO, Hsiung GR, Graff C, Öijerstedt L, Neumann M, Asmann Y, McDonnell SK, Baheti S, Josephs KA, Whitwell JL, Bieniek KF, Forsberg L, Heuer H, Lago AL, Geier EG, Yokoyama JS, Oddi AP, Flanagan M, Mao Q, Hodges JR, Kwok JB, Domoto-Reilly K, Synofzik M, Wilke C, Onyike C, Dickerson BC, Evers BM, Dugger BN, Munoz DG, Keith J, Zinman L, Rogaeva E, Suh E, Gefen T, Geula C, Weintraub S, Diehl-Schmid J, Farlow MR, Edbauer D, Woodruff BK, Caselli RJ, Donker Kaat LL, Huey ED, Reiman EM, Mead S, King A, Roeber S, Nana AL, Ertekin-Taner N, Knopman DS, Petersen RC, Petrucelli L, Uitti RJ, Wszolek ZK, Ramos EM, Grinberg LT, Gorno Tempini ML, Rosen HJ, Spina S, Piguet O, Grossman M, Trojanowski JQ, Keene DC, Lee-Way J, Prudlo J, Geschwind DH, Rissman RA, Cruchaga C, Ghetti B, Halliday GM, Beach TG, Serrano GE, Arzberger T, Herms J, Boxer AL, Honig LS, Vonsattel JP, Lopez OL, Kofler J, White CL, Gearing M, Glass J, Rohrer JD, Irwin DJ, Lee EB, Van Deerlin V, Castellani R, Mesulam MM, Tartaglia MC, Finger EC, Troakes C, Al-Sarraj S, Miller BL, Seelaar H, Graff-Radford NR, Boeve BF, Mackenzie IR, van Swieten JC, Seeley WW, Sleegers K, Dickson DW, Biernacka JM, Rademakers R

The wake and sleep-modulating neurons of the lateral hypothalamic area demonstrate a differential pattern of degeneration in Alzheimer's disease.

bioRxiv : the preprint server for biology

Satpati A, Soloviev AV, Pereira FL, Mladinov M, Larsen E, Leite REP, Suemoto CK, Rodriguez RD, Paes VR, Walsh C, Spina S, Seeley WW, Pasqualucci CA, Filho WJ, Neylan TC, Grinberg LT

Cell autonomous microglia defects in a stem cell model of frontotemporal dementia.

medRxiv : the preprint server for health sciences

Iyer AK, Vermunt L, Mirfakhar FS, Minaya M, Acquarone M, Koppisetti RK, Renganathan A, You SF, Danhash EP, Verbeck A, Galasso G, Lee SM, Marsh J, Nana AL, Spina S, Seeley WW, Grinberg LT, Temple S, Teunissen CE, Sato C, Karch CM

Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum.

Brain : a journal of neurology

Illán-Gala I, Lorca-Puls DL, Tee BL, Ezzes Z, de Leon J, Miller ZA, Rubio-Guerra S, Santos-Santos M, Gómez-Andrés D, Grinberg LT, Spina S, Kramer JH, Wauters LD, Henry ML, Boxer AL, Rosen HJ, Miller BL, Seeley WW, Mandelli ML, Gorno-Tempini ML

Large-scale network analysis of the cerebrospinal fluid proteome identifies molecular signatures of frontotemporal lobar degeneration.

Research square

Saloner R, Staffaroni A, Dammer E, Johnson ECB, Paolillo E, Wise A, Heuer H, Forsberg L, Lago AL, Webb J, Vogel J, Santillo A, Hansson O, Kramer J, Miller B, Li J, Loureiro J, Sivasankaran R, Worringer K, Seyfried N, Yokoyama J, Seeley W, Spina S, Grinberg L, VandeVrede L, Ljubenkov P, Bayram E, Bozoki A, Brushaber D, Considine C, Day G, Dickerson B, Domoto-Reilly K, Faber K, Galasko D, Geschwind D, Ghoshal N, Graff-Radford N, Hales C, Honig L, Hsiung GY, Huey E, Kornak J, Kremers W, Lapid M, Lee S, Litvan I, McMillan C, Mendez M, Miyagawa T, Pantelyat A, Pascual B, Paulson H, Petrucelli L, Pressman P, Ramos E, Rascovsky K, Roberson E, Savica R, Snyder A, Sullivan AC, Tartaglia C, Vandebergh M, Boeve B, Rosen H, Rojas J, Boxer A, Casaletto K

Clinicopathological correlation of cerebrospinal fluid alpha-synuclein seed amplification assay in a behavioral neurology autopsy cohort.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Samudra N, Fischer DL, Lenio S, Lario Lago A, Ljubenkov PA, Rojas JC, Seeley WW, Spina S, Staffaroni AM, Tablante J, Wekselman F, Lamoureux J, Concha-Marambio L, Grinberg LT, Boxer AL, VandeVrede L

Demographic, clinical, biomarker, and neuropathological correlates of posterior cortical atrophy: an international cohort study and individual participant data meta-analysis.

The Lancet. Neurology

Chapleau M, La Joie R, Yong K, Agosta F, Allen IE, Apostolova L, Best J, Boon BDC, Crutch S, Filippi M, Fumagalli GG, Galimberti D, Graff-Radford J, Grinberg LT, Irwin DJ, Josephs KA, Mendez MF, Mendez PC, Migliaccio R, Miller ZA, Montembeault M, Murray ME, Nemes S, Pelak V, Perani D, Phillips J, Pijnenburg Y, Rogalski E, Schott JM, Seeley W, Sullivan AC, Spina S, Tanner J, Walker J, Whitwell JL, Wolk DA, Ossenkoppele R, Rabinovici GD, PCA International Work Group

KIBRA repairs synaptic plasticity and promotes resilience to tauopathy-related memory loss.

The Journal of clinical investigation

Kauwe G, Pareja-Navarro KA, Yao L, Chen JH, Wong I, Saloner R, Cifuentes H, Nana AL, Shah S, Li Y, Le D, Spina S, Grinberg LT, Seeley WW, Kramer JH, Sacktor TC, Schilling B, Gan L, Casaletto KB, Tracy TE

Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum.

Brain : a journal of neurology

Lorca-Puls DL, Gajardo-Vidal A, Mandelli ML, Illán-Gala I, Ezzes Z, Wauters LD, Battistella G, Bogley R, Ratnasiri B, Licata AE, Battista P, García AM, Tee BL, Lukic S, Boxer AL, Rosen HJ, Seeley WW, Grinberg LT, Spina S, Miller BL, Miller ZA, Henry ML, Dronkers NF, Gorno-Tempini ML

Spatiotemporal characteristics of neurophysiological changes in patients with four-repeat tauopathies.

Annals of clinical and translational neurology

Samudra N, Lerner H, Yack L, Walsh CM, Kirsch HE, Kudo K, Yballa C, La Joie R, Gorno-Tempini ML, Spina S, Seeley WW, Neylan TC, Miller BL, Rabinovici GD, Boxer A, Grinberg LT, Rankin KP, Nagarajan SS, Ranasinghe KG

Pathology-specific patterns of cerebellar atrophy in neurodegenerative disorders.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Chen Y, Spina S, Callahan P, Grinberg LT, Seeley WW, Rosen HJ, Kramer JH, Miller BL, Rankin KP

Clinical Manifestations.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Illán-Gala I, Lorca-Puls DL, Miller Z, Rubio-Guerra S, Santos-Santos MA, Lleó A, Grinberg LT, Spina S, Rankin KP, Kramer JH, Rabinovici GD, Boxer AL, Rosen HJ, Perry DC, Miller BL, Seeley WW, Mandelli ML, Tempini MLG

Mutant tau and stress lead to downregulation of long noncoding RNA, SNHG8.

Molecular psychiatry

Bhagat R, Minaya MA, Renganathan A, Mehra M, Marsh J, Martinez R, Eteleeb AM, Nana AL, Spina S, Seeley WW, Grinberg LT, Karch CM

FTLD targets brain regions expressing recently evolved genes.

medRxiv : the preprint server for health sciences

Pasquini L, Pereira FL, Seddighi S, Zeng Y, Wei Y, Illán-Gala I, Vatsavayai SC, Friedberg A, Lee AJ, Brown JA, Spina S, Grinberg LT, Sirkis DW, Bonham LW, Yokoyama JS, Boxer AL, Kramer JH, Rosen HJ, Humphrey J, Gitler AD, Miller BL, Pollard KS, Ward ME, Seeley WW

Structure-based design of nanobodies that inhibit seeding of Alzheimer's patient-extracted tau fibrils.

Proceedings of the National Academy of Sciences of the United States of America

Abskharon R, Pan H, Sawaya MR, Seidler PM, Olivares EJ, Chen Y, Murray KA, Zhang J, Lantz C, Bentzel M, Boyer DR, Cascio D, Nguyen BA, Hou K, Cheng X, Pardon E, Williams CK, Nana AL, Vinters HV, Spina S, Grinberg LT, Seeley WW, Steyaert J, Glabe CG, Ogorzalek Loo RR, Loo JA, Eisenberg DS

Disease-specific selective vulnerability and neuroimmune pathways in dementia revealed by single cell genomics.

bioRxiv : the preprint server for biology

Rexach JE, Cheng Y, Chen L, Polioudakis D, Lin LC, Mitri V, Elkins A, Yin A, Calini D, Kawaguchi R, Ou J, Huang J, Williams C, Robinson J, Gaus SE, Spina S, Lee EB, Grinberg LT, Vinters H, Trojanowski JQ, Seeley WW, Malhotra D, Geschwind DH

Long non-coding RNA SNHG8 drives stress granule formation in tauopathies.

Molecular psychiatry

Bhagat R, Minaya MA, Renganathan A, Mehra M, Marsh J, Martinez R, Eteleeb AM, Nana AL, Spina S, Seeley WW, Grinberg LT, Karch CM

Neuropsychiatric symptoms and imbalance of atrophy in behavioral variant frontotemporal dementia.

Human brain mapping

Sokolowski A, Roy ARK, Goh SM, Hardy EG, Datta S, Cobigo Y, Brown JA, Spina S, Grinberg L, Kramer J, Rankin KP, Seeley WW, Sturm VE, Rosen HJ, Miller BL, Perry DC

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies LRRC4C, LHX5-AS1 and nominates ancestry-specific loci PTPRK , GRB14 , and KIAA0825 as novel risk loci for Alzheimer's disease: the Alzheimer's Disease Genetics Consortium.

medRxiv : the preprint server for health sciences

Rajabli F, Benchek P, Tosto G, Kushch N, Sha J, Bazemore K, Zhu C, Lee WP, Haut J, Hamilton-Nelson KL, Wheeler NR, Zhao Y, Farrell JJ, Grunin MA, Leung YY, Kuksa PP, Li D, Lucio da Fonseca E, Mez JB, Palmer EL, Pillai J, Sherva RM, Song YE, Zhang X, Iqbal T, Pathak O, Valladares O, Kuzma AB, Abner E, Adams PM, Aguirre A, Albert MS, Albin RL, Allen M, Alvarez L, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Ayres G, Baldwin CT, Barber RC, Barnes LL, Barral S, Beach TG, Becker JT, Beecham GW, Beekly D, Benitez BA, Bennett D, Bertelson J, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Brewer J, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Chasse S, Chesselet MF, Chin NA, Chui HC, Chung J, Craft S, Crane PK, Cribbs DH, Crocco EA, Cruchaga C, Cuccaro ML, Cullum M, Darby E, Davis B, De Jager PL, DeCarli C, DeToledo J, Dick M, Dickson DW, Dombroski BA, Doody RS, Duara R, Ertekin-Taner N, Evans DA, Faber KM, Fairchild TJ, Fallon KB, Fardo DW, Farlow MR, Fernandez-Hernandez V, Ferris S, Foroud TM, Frosch MP, Fulton-Howard B, Galasko DR, Gamboa A, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Goate AM, Grabowski TJ, Graff-Radford NR, Green RC, Growdon JH, Hakonarson H, Hall J, Hamilton RL, Harari O, Hardy J, Harrell LE, Head E, Henderson VW, Hernandez M, Hohman T, Honig LS, Huebinger RM, Huentelman MJ, Hulette CM, Hyman BT, Hynan LS, Ibanez L, Jarvik GP, Jayadev S, Jin LW, Johnson K, Johnson L, Kamboh MI, Karydas AM, Katz MJ, Kauwe JS, Kaye JA, Keene CD, Khaleeq A, Kim R, Knebl J, Kowall NW, Kramer JH, Kukull WA, LaFerla FM, Lah JJ, Larson EB, Lerner A, Leverenz JB, Levey AI, Lieberman AP, Lipton RB, Logue M, Lopez OL, Lunetta KL, Lyketsos CG, Mains D, Margaret FE, Marson DC, Martin ERR, Martiniuk F, Mash DC, Masliah E, Massman P, Masurkar A, McCormick WC, McCurry SM, McDavid AN, McDonough S, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Montine TJ, Monuki ES, Morris JC, Mukherjee S, Myers AJ, Nguyen T, O'Bryant S, Olichney JM, Ory M, Palmer R, Parisi JE, Paulson HL, Pavlik V, Paydarfar D, Perez V, Peskind E, Petersen RC, Pierce A, Polk M, Poon WW, Potter H, Qu L, Quiceno M, Quinn JF, Raj A, Raskind M, Reiman EM, Reisberg B, Reisch JS, Ringman JM, Roberson ED, Rodriguear M, Rogaeva E, Rosen HJ, Rosenberg RN, Royall DR, Sager MA, Sano M, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Slifer SH, Small S, Smith AG, Smith JP, Sonnen JA, Spina S, St George-Hyslop P, Stern RA, Stevens AB, Strittmatter SM, Sultzer D, Swerdlow RH, Tanzi RE, Tilson JL, Trojanowski JQ, Troncoso JC, Tsuang DW, Van Deerlin VM, van Eldik LJ, Vance JM, Vardarajan BN, Vassar R, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Whitehead PL, Wijsman EM, Wilhelmsen KC, Williams B, Williamson J, Wilms H, Wingo TS, Wisniewski T, Woltjer RL, Woon M, Wright CB, Wu CK, Younkin SG, Yu CE, Yu L, Zhu X, Kunkle BW, Bush WS, Wang LS, Farrer LA, Haines JL, Mayeux R, Pericak-Vance MA, Schellenberg GD, Jun GR, Reitz C, Naj AC

KIBRA repairs synaptic plasticity and promotes resilience to tauopathy-related memory loss.

bioRxiv : the preprint server for biology

Kauwe G, Pareja-Navarro KA, Yao L, Chen JH, Wong I, Saloner R, Cifuentes H, Nana AL, Shah S, Li Y, Le D, Spina S, Grinberg LT, Seeley WW, Kramer JH, Sacktor TC, Schilling B, Gan L, Casaletto KB, Tracy TE

Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.

Acta neuropathologica communications

Davis SE, Cook AK, Hall JA, Voskobiynyk Y, Carullo NV, Boyle NR, Hakim AR, Anderson KM, Hobdy KP, Pugh DA, Murchison CF, McMeekin LJ, Simmons M, Margolies KA, Cowell RM, Nana AL, Spina S, Grinberg LT, Miller BL, Seeley WW, Arrant AE

Creating the Pick's disease International Consortium: Association study of MAPT H2 haplotype with risk of Pick's disease.

medRxiv : the preprint server for health sciences

Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, Warner TT, Jaunmuktane Z, Boeve BF, Christopher EA, DeTure M, Duara R, Graff-Radford NR, Josephs KA, Knopman DS, Koga S, Murray ME, Lyons KE, Pahwa R, Parisi JE, Petersen RC, Whitwell J, Grinberg LT, Miller B, Schlereth A, Seeley WW, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Trojanowski JQ, Van Deerlin VM, Wolk DA, Connors TR, Dooley PM, Frosch MP, Oakley DH, Aldecoa I, Balasa M, Gelpi E, Borrego-Écija S, de Eugenio Huélamo RM, Gascon-Bayarri J, Sánchez-Valle R, Sanz-Cartagena P, Piñol-Ripoll G, Molina-Porcel L, Bigio EH, Flanagan ME, Gefen T, Rogalski EJ, Weintraub S, Redding-Ochoa J, Chang K, Troncoso JC, Prokop S, Newell KL, Ghetti B, Jones M, Richardson A, Robinson AC, Roncaroli F, Snowden J, Allinson K, Green O, Rowe JB, Singh P, Beach TG, Serrano GE, Flowers XE, Goldman JE, Heaps AC, Leskinen SP, Teich AF, Black SE, Keith JL, Masellis M, Bodi I, King A, Sarraj SA, Troakes C, Halliday GM, Hodges JR, Kril JJ, Kwok JB, Piguet O, Gearing M, Arzberger T, Roeber S, Attems J, Morris CM, Thomas AJ, Evers BM, White CL, Mechawar N, Sieben AA, Cras PP, De Vil BB, De Deyn PPPP, Duyckaerts C, Ber IL, Seihean D, Turbant-Leclere S, MacKenzie IR, McLean C, Cykowski MD, Ervin JF, Wang SJ, Graff C, Nennesmo I, Nagra RM, Riehl J, Kovacs GG, Giaccone G, Nacmias B, Neumann M, Ang LC, Finger EC, Blauwendraat C, Nalls MA, Singleton AB, Vitale D, Cunha C, Carvalho A, Wszolek ZK, Morris HR, Rademakers R, Hardy JA, Dickson DW, Rohrer JD, Ross OA

Prevalence, Timing, and Network Localization of Emergent Visual Creativity in Frontotemporal Dementia.

JAMA neurology

Friedberg A, Pasquini L, Diggs R, Glaubitz EA, Lopez L, Ill?n-Gala I, Iaccarino L, La Joie R, Mundada N, Knudtson M, Neylan K, Brown J, Allen IE, Rankin KP, Bonham LW, Yokoyama JS, Ramos EM, Geschwind DH, Spina S, Grinberg LT, Miller ZA, Kramer JH, Rosen H, Gorno-Tempini ML, Rabinovici G, Seeley WW, Miller BL

Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations.

The Journal of clinical investigation

Marsan E, Velmeshev D, Ramsey A, Patel RK, Zhang J, Koontz M, Andrews MG, de Majo M, Mora C, Blumenfeld J, Li AN, Spina S, Grinberg LT, Seeley W, Miller BL, Ullian EM, Krummel MF, Kriegstein A, Huang EJ

Long non-coding RNA SNHG8 drives stress granule formation in tauopathies.

medRxiv : the preprint server for health sciences

Bhagat R, Minaya MA, Renganathan A, Mehra M, Marsh J, Martinez R, Nana AL, Spina S, Seeley WW, Grinberg LT, Karch CM

Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.

Journal of medical genetics

Ogonowski N, Santamaria-Garcia H, Baez S, Lopez A, Laserna A, Garcia-Cifuentes E, Ayala-Ramirez P, Zarante I, Suarez-Obando F, Reyes P, Kauffman M, Cochran N, Schulte M, Sirkis DW, Spina S, Yokoyama JS, Miller BL, Kosik KS, Matallana D, Ib??ez A

Conserved gene signatures shared among MAPT mutations reveal defects in calcium signaling.

Frontiers in molecular biosciences

Minaya MA, Mahali S, Iyer AK, Eteleeb AM, Martinez R, Huang G, Budde J, Temple S, Nana AL, Seeley WW, Spina S, Grinberg LT, Harari O, Karch CM

Alzheimer's disease phenotypes show different sleep architecture.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Falgàs N, Walsh CM, Yack L, Simon AJ, Allen IE, Kramer JH, Rosen HJ, Joie R, Rabinovici G, Miller B, Spina S, Seeley WW, Ranasinghe K, Vossel K, Neylan TC, Grinberg LT

CSF tau microtubule-binding region identifies pathological changes in primary tauopathies.

Nature medicine

Horie K, Barth?lemy NR, Spina S, VandeVrede L, He Y, Paterson RW, Wright BA, Day GS, Davis AA, Karch CM, Seeley WW, Perrin RJ, Koppisetti RK, Shaikh F, Lago AL, Heuer HW, Ghoshal N, Gabelle A, Miller BL, Boxer AL, Bateman RJ, Sato C

Right temporal lobe and socioemotional semantics: semantic behavioural variant frontotemporal dementia.

Brain : a journal of neurology

Younes K, Borghesani V, Montembeault M, Spina S, Mandelli ML, Welch AE, Weis E, Callahan P, Elahi FM, Hua AY, Perry DC, Karydas A, Geschwind D, Huang E, Grinberg LT, Kramer JH, Boxer AL, Rabinovici GD, Rosen HJ, Seeley WW, Miller ZA, Miller BL, Sturm VE, Rankin KP, Luisa Gorno-Tempini M

Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis.

Nature communications

Boland S, Swarup S, Ambaw YA, Malia PC, Richards RC, Fischer AW, Singh S, Aggarwal G, Spina S, Nana AL, Grinberg LT, Seeley WW, Surma MA, Klose C, Paulo JA, Nguyen AD, Harper JW, Walther TC, Farese RV

Detection of emerging neurodegeneration using Bayesian linear mixed-effect modeling.

NeuroImage. Clinical

Cobigo Y, Goh MS, Wolf A, Staffaroni AM, Kornak J, Miller BL, Rabinovici GD, Seeley WW, Spina S, Boxer AL, Boeve BF, Wang L, Allegri R, Farlow M, Mori H, Perrin RJ, Kramer J, Rosen HJ, Alzheimer’s Disease Neuroimaging Initiative (ADNI) and the Dominantly Inherited Alzheimer’s Network

Postmortem Human Dura Mater Cells Exhibit Phenotypic, Transcriptomic and Genetic Abnormalities that Impact their Use for Disease Modeling.

Stem cell reviews and reports

Argouarch AR, Schultz N, Yang AC, Jang Y, Garcia K, Cosme CG, Corrales CI, Nana AL, Karydas AM, Spina S, Grinberg LT, Miller B, Wyss-Coray T, Abyzov A, Goodarzi H, Seeley WW, Kao AW

Multimodal Biomarkers of Repetitive Head Impacts and Traumatic Encephalopathy Syndrome: A Clinico-Pathological Case Series.

Journal of neurotrauma

Asken B, Tanner JA, VandeVrede L, Casaletto KB, Staffaroni AM, Mundada N, Fonseca C, Iaccarino L, La Joie R, Tsuei T, Mladinov M, Grant H, Shankar R, Wang KKW, Xu H, Cobigo Y, Rosen H, Gardner RC, Perry DC, Miller BL, Spina S, Seeley WW, Kramer J, Grinberg LT, Rabinovici G

Caspase-6-cleaved tau is relevant in Alzheimer's disease and marginal in four-repeat tauopathies: diagnostic and therapeutic implications.

Neuropathology and applied neurobiology

Theofilas P, Piergies AMH, Oh I, Lee YB, Li SH, Pereira FL, Petersen C, Ehrenberg AJ, Eser RA, Ambrose AJ, Chin B, Yang T, Khan S, Ng R, Spina S, Seeley WW, Miller BL, Arkin MR, Grinberg LT

Subcortical Neuronal Correlates of Sleep in Neurodegenerative Diseases.

JAMA neurology

Oh JY, Walsh CM, Ranasinghe K, Mladinov M, Pereira FL, Petersen C, Falgàs N, Yack L, Lamore T, Nasar R, Lew C, Li S, Metzler T, Coppola Q, Pandher N, Le M, Heuer HW, Heinsen H, Spina S, Seeley WW, Kramer J, Rabinovici GD, Boxer AL, Miller BL, Vossel K, Neylan TC, Grinberg LT

Diagnostic Accuracy of Magnetic Resonance Imaging Measures of Brain Atrophy Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Degeneration.

JAMA network open

Illán-Gala I, Nigro S, VandeVrede L, Falgàs N, Heuer HW, Painous C, Compta Y, Martí MJ, Montal V, Pagonabarraga J, Kulisevsky J, Lleó A, Fortea J, Logroscino G, Quattrone A, Quattrone A, Perry DC, Gorno-Tempini ML, Rosen HJ, Grinberg LT, Spina S, La Joie R, Rabinovici GD, Miller BL, Rojas JC, Seeley WW, Boxer AL

Cerebrospinal Fluid Biomarkers in Autopsy-Confirmed Alzheimer Disease and Frontotemporal Lobar Degeneration.

Neurology

Mattsson-Carlgren N, Grinberg LT, Boxer A, Ossenkoppele R, Jonsson M, Seeley W, Ehrenberg A, Spina S, Janelidze S, Rojas-Martinex J, Rosen H, La Joie R, Lesman-Segev O, Iaccarino L, Kollmorgen G, Ljubenkov P, Eichenlaub U, Gorno-Tempini ML, Miller B, Hansson O, Rabinovici GD

The behavioral variant of Alzheimer's disease does not show a selective loss of Von Economo and phylogenetically related neurons in the anterior cingulate cortex.

Alzheimer's research & therapy

Singleton EH, Pijnenburg YAL, Gami-Patel P, Boon BDC, Bouwman F, Papma JM, Seelaar H, Scheltens P, Grinberg LT, Spina S, Nana AL, Rabinovici GD, Seeley WW, Ossenkoppele R, Dijkstra AA

Late-Onset Alcohol Abuse as a Presenting Symptom of Neurodegenerative Diseases.

Journal of Alzheimer's disease : JAD

de Paula França Resende E, Ketelle R, Karydas A, Allen I, Grinberg LT, Spina S, Seeley WW, Perry DC, Miller B, Naasan G

The severity of neuropsychiatric symptoms is higher in early-onset than late-onset Alzheimer's Disease.

European journal of neurology

Falgàs N, Allen IE, Spina S, Grant H, Piña Escudero SD, Merrilees J, Gearhart R, Rosen HJ, Kramer JH, Seeley WW, Neylan TC, Miller BL, Rabinovici GD, Grinberg LT, Walsh CM

Inefficient quality control of ribosome stalling during APP synthesis generates CAT-tailed species that precipitate hallmarks of Alzheimer's disease.

Acta neuropathologica communications

Rimal S, Li Y, Vartak R, Geng J, Tantray I, Li S, Huh S, Vogel H, Glabe C, Grinberg LT, Spina S, Seeley WW, Guo S, Lu B

Plasma phosphorylated tau 217 and phosphorylated tau 181 as biomarkers in Alzheimer's disease and frontotemporal lobar degeneration: a retrospective diagnostic performance study.

The Lancet. Neurology

Thijssen EH, La Joie R, Strom A, Fonseca C, Iaccarino L, Wolf A, Spina S, Allen IE, Cobigo Y, Heuer H, VandeVrede L, Proctor NK, Lago AL, Baker S, Sivasankaran R, Kieloch A, Kinhikar A, Yu L, Valentin MA, Jeromin A, Zetterberg H, Hansson O, Mattsson-Carlgren N, Graham D, Blennow K, Kramer JH, Grinberg LT, Seeley WW, Rosen H, Boeve BF, Miller BL, Teunissen CE, Rabinovici GD, Rojas JC, Dage JL, Boxer AL, Advancing Research and Treatment for Frontotemporal Lobar Degeneration investigators

Comorbid neuropathological diagnoses in early versus late-onset Alzheimer's disease.

Brain : a journal of neurology

Spina S, La Joie R, Petersen C, Nolan AL, Cuevas D, Cosme C, Hepker M, Hwang JH, Miller ZA, Huang EJ, Karydas AM, Grant H, Boxer AL, Gorno-Tempini ML, Rosen HJ, Kramer JH, Miller BL, Seeley WW, Rabinovici GD, Grinberg LT

Neuroimaging in Frontotemporal Dementia: Heterogeneity and Relationships with Underlying Neuropathology.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Peet BT, Spina S, Mundada N, La Joie R

Psychosis in neurodegenerative disease: differential patterns of hallucination and delusion symptoms.

Brain : a journal of neurology

Naasan G, Shdo SM, Rodriguez EM, Spina S, Grinberg L, Lopez L, Karydas A, Seeley WW, Miller BL, Rankin KP

Patterns of neuronal Rhes as a novel hallmark of tauopathies.

Acta neuropathologica

Ehrenberg AJ, Leng K, Letourneau KN, Hernandez I, Lew C, Seeley WW, Spina S, Miller B, Heinsen H, Kampmann M, Kosik KS, Grinberg LT

Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration.

JAMA network open

Illán-Gala I, Falgàs N, Friedberg A, Castro-Suárez S, Keret O, Rogers N, Oz D, Nigro S, Quattrone A, Quattrone A, Wolf A, Younes K, Santos-Santos M, Borrego-Écija S, Cobigo Y, Dols-Icardo O, Lladó A, Sánchez-Valle R, Clarimon J, Blesa R, Alcolea D, Fortea J, Lleó A, Grinberg LT, Spina S, Kramer JH, Rabinovici GD, Boxer A, Gorno Tempini ML, Miller BL, Seeley WW, Rosen HJ, Perry DC

A novel temporal-predominant neuro-astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS-TDP.

Brain pathology (Zurich, Switzerland)

Llibre-Guerra JJ, Lee SE, Suemoto CK, Ehrenberg AJ, Kovacs GG, Karydas A, Staffaroni A, De Paula Franca Resende E, Kim EJ, Hwang JH, Ramos EM, Wojta KJ, Pasquini L, Pang SY, Spina S, Allen IE, Kramer J, Miller BL, Seeley WW, Grinberg LT

Molecular characterization of selectively vulnerable neurons in Alzheimer's disease.

Nature neuroscience

Leng K, Li E, Eser R, Piergies A, Sit R, Tan M, Neff N, Li SH, Rodriguez RD, Suemoto CK, Leite REP, Ehrenberg AJ, Pasqualucci CA, Seeley WW, Spina S, Heinsen H, Grinberg LT, Kampmann M

Diagnostic Accuracy of Amyloid versus FDG PET in Autopsy-Confirmed Dementia.

Annals of neurology

Lesman-Segev OH, La Joie R, Iaccarino L, Lobach I, Rosen HJ, Seo SW, Janabi M, Baker SL, Edwards L, Pham J, Olichney J, Boxer A, Huang E, Gorno-Tempini M, DeCarli C, Hepker M, Hwang JL, Miller BL, Spina S, Grinberg LT, Seeley WW, Jagust WJ, Rabinovici GD

18F-flortaucipir PET to autopsy comparisons in Alzheimer's disease and other neurodegenerative diseases.

Brain : a journal of neurology

Soleimani-Meigooni DN, Iaccarino L, La Joie R, Baker S, Bourakova V, Boxer AL, Edwards L, Eser R, Gorno-Tempini ML, Jagust WJ, Janabi M, Kramer JH, Lesman-Segev OH, Mellinger T, Miller BL, Pham J, Rosen HJ, Spina S, Seeley WW, Strom A, Grinberg LT, Rabinovici GD

Brain volumetric deficits in MAPT mutation carriers: a multisite study.

Annals of clinical and translational neurology

Chu SA, Flagan TM, Staffaroni AM, Jiskoot LC, Deng J, Spina S, Zhang L, Sturm VE, Yokoyama JS, Seeley WW, Papma JM, Geschwind DH, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Forsberg LK, Brushaber DE, Grossman M, Coppola G, Dickerson BC, Bordelon YM, Faber K, Feldman HH, Fields JA, Fong JC, Foroud T, Gavrilova RH, Ghoshal N, Graff-Radford NR, Hsiung GR, Huey ED, Irwin DJ, Kantarci K, Kaufer DI, Karydas AM, Knopman DS, Kornak J, Kramer JH, Kukull WA, Lapid MI, Litvan I, Mackenzie IRA, Mendez MF, Miller BL, Onyike CU, Pantelyat AY, Rademakers R, Marisa Ramos E, Roberson ED, Carmela Tartaglia M, Tatton NA, Toga AW, Vetor A, Weintraub S, Wong B, Wszolek ZK

Elevated levels of extracellular vesicles in progranulin-deficient mice and FTD-GRN Patients.

Annals of clinical and translational neurology

Arrant AE, Davis SE, Vollmer RM, Murchison CF, Mobley JA, Nana AL, Spina S, Grinberg LT, Karydas AM, Miller BL, Seeley WW, Roberson ED

Plasma tau and neurofilament light in frontotemporal lobar degeneration and Alzheimer's disease.

Neurology

Illán-Gala I, Lleo A, Karydas A, Staffaroni AM, Zetterberg H, Sivasankaran R, Grinberg LT, Spina S, Kramer J, Ramos EM, Coppola G, La Joie R, Rabinovici GD, Perry DC, Gorno-Tempini ML, Seeley W, Miller BL, Rosen HJ, Blennow K, Boxer AL, Rojas JC

Salience Network Atrophy Links Neuron Type-Specific Pathobiology to Loss of Empathy in Frontotemporal Dementia.

Cerebral cortex (New York, N.Y. : 1991)

Pasquini L, Nana AL, Toller G, Brown JA, Deng J, Staffaroni A, Kim EJ, Hwang JL, Li L, Park Y, Gaus SE, Allen I, Sturm VE, Spina S, Grinberg LT, Rankin KP, Kramer JH, Rosen HJ, Miller BL, Seeley WW

Regional and hemispheric susceptibility of the temporal lobe to FTLD-TDP type C pathology.

NeuroImage. Clinical

Borghesani V, Battistella G, Mandelli ML, Welch A, Weis E, Younes K, Neuhaus J, Grinberg LT, Seeley WM, Spina S, Miller B, Miller Z, Gorno-Tempini ML

Comparison of Amyloid in Cerebrospinal Fluid, Brain Imaging, and Autopsy in a Case of Progressive Supranuclear Palsy.

Alzheimer disease and associated disorders

Kim KH, Seo JD, Kim ES, Kim HS, Jeon S, Pak K, Lee MJ, Lee JH, Lee YM, Lee K, Shin JH, Ko JK, Jung NY, Lee JM, Yoon JA, Hwang C, Ahn JW, Sung S, Spina S, Seeley WW, Choi KU, Huh GY, Kim EJ

Tau Positron Emission Tomographic Findings in a Former US Football Player With Pathologically Confirmed Chronic Traumatic Encephalopathy.

JAMA neurology

Mantyh WG, Spina S, Lee A, Iaccarino L, Soleimani-Meigooni D, Tsoy E, Mellinger TJ, Grant H, Vandevrede L, La Joie R, Lesman-Segev O, Gaus S, Possin KL, Grinberg LT, Miller BL, Seeley WW, Rabinovici GD

Diagnostic value of plasma phosphorylated tau181 in Alzheimer's disease and frontotemporal lobar degeneration.

Nature medicine

Thijssen EH, La Joie R, Wolf A, Strom A, Wang P, Iaccarino L, Bourakova V, Cobigo Y, Heuer H, Spina S, VandeVrede L, Chai X, Proctor NK, Airey DC, Shcherbinin S, Duggan Evans C, Sims JR, Zetterberg H, Blennow K, Karydas AM, Teunissen CE, Kramer JH, Grinberg LT, Seeley WW, Rosen H, Boeve BF, Miller BL, Rabinovici GD, Dage JL, Rojas JC, Boxer AL

Language and spatial dysfunction in Alzheimer disease with white matter thorn-shaped astrocytes.

Neurology

Resende EPF, Nolan AL, Petersen C, Ehrenberg AJ, Spina S, Allen IE, Rosen HJ, Kramer J, Miller BL, Seeley WW, Gorno-Tempini ML, Miller Z, Grinberg LT

Correction to: 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.

Acta neuropathologica

Saijo E, Metrick MA, Koga S, Parchi P, Litvan I, Spina S, Boxer A, Rojas JC, Galasko D, Kraus A, Rossi M, Newell K, Zanusso G, Grinberg LT, Seeley WW, Ghetti B, Dickson DW, Caughey B

Impaired ß-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations.

Acta neuropathologica communications

Arrant AE, Roth JR, Boyle NR, Kashyap SN, Hoffmann MQ, Murchison CF, Ramos EM, Nana AL, Spina S, Grinberg LT, Miller BL, Seeley WW, Roberson ED

Astrocytic Tau Deposition Is Frequent in Typical and Atypical Alzheimer Disease Presentations.

Journal of neuropathology and experimental neurology

Nolan A, De Paula Franca Resende E, Petersen C, Neylan K, Spina S, Huang E, Seeley W, Miller Z, Grinberg LT

Cortical developmental abnormalities in logopenic variant primary progressive aphasia with dyslexia.

Brain Communications

Miller ZA, Spina S, Pakvasa M, Rosenberg L, Watson C, Mandelli ML, Paredes MF, Joie R, Rabinovici GD, Rosen HJ, Grinberg LT, Huang EJ, Miller BL, Seeley WW, Gorno-Tempini ML

Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants.

Acta neuropathologica communications

Lin LC, Nana AL, Hepker M, Hwang JL, Gaus SE, Spina S, Cosme CG, Gan L, Grinberg LT, Geschwind DH, Coppola G, Rosen HJ, Miller BL, Seeley WW

A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies.

Stem cell reports

Karch CM, Kao AW, Karydas A, Onanuga K, Martinez R, Argouarch A, Wang C, Huang C, Sohn PD, Bowles KR, Spina S, Silva MC, Marsh JA, Hsu S, Pugh DA, Ghoshal N, Norton J, Huang Y, Lee SE, Seeley WW, Theofilas P, Grinberg LT, Moreno F, McIlroy K, Boeve BF, Cairns NJ, Crary JF, Haggarty SJ, Ichida JK, Kosik KS, Miller BL, Gan L, Goate AM, Temple S

4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.

Acta neuropathologica

Saijo E, Metrick MA, Koga S, Parchi P, Litvan I, Spina S, Boxer A, Rojas JC, Galasko D, Kraus A, Rossi M, Newell K, Zanusso G, Grinberg LT, Seeley WW, Ghetti B, Dickson DW, Caughey B

Patient-Tailored, Connectivity-Based Forecasts of Spreading Brain Atrophy.

Neuron

Brown JA, Deng J, Neuhaus J, Sible IJ, Sias AC, Lee SE, Kornak J, Marx GA, Karydas AM, Spina S, Grinberg LT, Coppola G, Geschwind DH, Kramer JH, Gorno-Tempini ML, Miller BL, Rosen HJ, Seeley WW

Evidence of corticofugal tau spreading in patients with frontotemporal dementia.

Acta neuropathologica

Kim EJ, Hwang JL, Gaus SE, Nana AL, Deng J, Brown JA, Spina S, Lee MJ, Ramos EM, Grinberg LT, Kramer JH, Boxer AL, Gorno-Tempini ML, Rosen HJ, Miller BL, Seeley WW

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing.

Nature genetics

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al

Profound degeneration of wake-promoting neurons in Alzheimer's disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Oh J, Eser RA, Ehrenberg AJ, Morales D, Petersen C, Kudlacek J, Dunlop SR, Theofilas P, Resende EDPF, Cosme C, Alho EJL, Spina S, Walsh CM, Miller BL, Seeley WW, Bittencourt JC, Neylan TC, Heinsen H, Grinberg LT

Neuropathological correlates of structural and functional imaging biomarkers in 4-repeat tauopathies.

Brain : a journal of neurology

Spina S, Brown JA, Deng J, Gardner RC, Nana AL, Hwang JL, Gaus SE, Huang EJ, Kramer JH, Rosen HJ, Kornak J, Neuhaus J, Miller BL, Grinberg LT, Boxer AL, Seeley WW

Alzheimer's disease clinical variants show distinct regional patterns of neurofibrillary tangle accumulation.

Acta neuropathologica

Petersen C, Nolan AL, de Paula França Resende E, Miller Z, Ehrenberg AJ, Gorno-Tempini ML, Rosen HJ, Kramer JH, Spina S, Rabinovici GD, Miller BL, Seeley WW, Heinsen H, Grinberg LT

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing.

Nature genetics

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roschupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Acta neuropathologica

Pottier C, Ren Y, Perkerson RB, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson DW, Biernacka JM, Rademakers R

Longitudinal multimodal imaging and clinical endpoints for frontotemporal dementia clinical trials.

Brain : a journal of neurology

Staffaroni AM, Ljubenkov PA, Kornak J, Cobigo Y, Datta S, Marx G, Walters SM, Chiang K, Olney N, Elahi FM, Knopman DS, Dickerson BC, Boeve BF, Gorno-Tempini ML, Spina S, Grinberg LT, Seeley WW, Miller BL, Kramer JH, Boxer AL, Rosen HJ

18F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes.

Alzheimer's research & therapy

Tsai RM, Bejanin A, Lesman-Segev O, LaJoie R, Visani A, Bourakova V, O'Neil JP, Janabi M, Baker S, Lee SE, Perry DC, Bajorek L, Karydas A, Spina S, Grinberg LT, Seeley WW, Ramos EM, Coppola G, Gorno-Tempini ML, Miller BL, Rosen HJ, Jagust W, Boxer AL, Rabinovici GD

FDG-PET patterns associated with underlying pathology in corticobasal syndrome.

Neurology

Pardini M, Huey ED, Spina S, Kreisl WC, Morbelli S, Wassermann EM, Nobili F, Ghetti B, Grafman J

Multiple system atrophy prions retain strain specificity after serial propagation in two different Tg(SNCA*A53T) mouse lines.

Acta neuropathologica

Woerman AL, Oehler A, Kazmi SA, Lee J, Halliday GM, Middleton LT, Gentleman SM, Mordes DA, Spina S, Grinberg LT, Olson SH, Prusiner SB

Primary progressive aphasia and the FTD-MND spectrum disorders: clinical, pathological, and neuroimaging correlates.

Amyotrophic lateral sclerosis & frontotemporal degeneration

Vinceti G, Olney N, Mandelli ML, Spina S, Hubbard HI, Santos-Santos MA, Watson C, Miller ZA, Lomen-Hoerth C, Nichelli P, Miller BL, Grinberg LT, Seeley WW, Gorno-Tempini ML

Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.

Acta neuropathologica

Geier EG, Bourdenx M, Storm NJ, Cochran JN, Sirkis DW, Hwang JH, Bonham LW, Ramos EM, Diaz A, Van Berlo V, Dokuru D, Nana AL, Karydas A, Balestra ME, Huang Y, Russo SP, Spina S, Grinberg LT, Seeley WW, Myers RM, Miller BL, Coppola G, Lee SE, Cuervo AM, Yokoyama JS

Multisite study of the relationships between antemortem [11C]PIB-PET Centiloid values and postmortem measures of Alzheimer's disease neuropathology.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Joie R, Ayakta N, Seeley WW, Borys E, Boxer AL, DeCarli C, Doré V, Grinberg LT, Huang E, Hwang JH, Ikonomovic MD, Jack C, Jagust WJ, Jin LW, Klunk WE, Kofler J, Lesman-Segev OH, Lockhart SN, Lowe VJ, Masters CL, Mathis CA, McLean CL, Miller BL, Mungas D, O'Neil JP, Olichney JM, Parisi JE, Petersen RC, Rosen HJ, Rowe CC, Spina S, Vemuri P, Villemagne VL, Murray ME, Rabinovici GD

Mixed TDP-43 proteinopathy and tauopathy in frontotemporal lobar degeneration: nine case series.

Journal of neurology

Kim EJ, Brown JA, Deng J, Hwang JL, Spina S, Miller ZA, DeMay MG, Valcour V, Karydas A, Ramos EM, Coppola G, Miller BL, Rosen HJ, Seeley WW, Grinberg LT

Cerebrospinal fluid biomarkers predict frontotemporal dementia trajectory.

Annals of clinical and translational neurology

Ljubenkov PA, Staffaroni AM, Rojas JC, Allen IE, Wang P, Heuer H, Karydas A, Kornak J, Cobigo Y, Seeley WW, Grinberg LT, Spina S, Fagan AM, Jerome G, Knopman D, Boeve BF, Dickerson BC, Kramer J, Miller B, Boxer AL, Rosen HJ

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

The Lancet. Neurology

Pottier C, Zhou X, Perkerson RB, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R

18 F-flortaucipir tau positron emission tomography distinguishes established progressive supranuclear palsy from controls and Parkinson disease: A multicenter study.

Annals of neurology

Schonhaut DR, McMillan CT, Spina S, Dickerson BC, Siderowf A, Devous MD, Tsai R, Winer J, Russell DS, Litvan I, Roberson ED, Seeley WW, Grinberg LT, Kramer JH, Miller BL, Pressman P, Nasrallah I, Baker SL, Gomperts SN, Johnson KA, Grossman M, Jagust WJ, Boxer AL, Rabinovici GD

ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy.

Nature

Shi Y, Yamada K, Liddelow SA, Smith ST, Zhao L, Luo W, Tsai RM, Spina S, Grinberg LT, Rojas JC, Gallardo G, Wang K, Roh J, Robinson G, Finn MB, Jiang H, Sullivan PM, Baufeld C, Wood MW, Sutphen C, McCue L, Xiong C, Del-Aguila JL, Morris JC, Cruchaga C

Advancing functional dysconnectivity and atrophy in progressive supranuclear palsy.

NeuroImage. Clinical

Brown JA, Hua AY, Trujllo A, Attygalle S, Binney RJ, Spina S, Lee SE, Kramer JH, Miller BL, Rosen HJ, Boxer AL, Seeley WW

Globular glial tauopathy presenting as non-fluent/agrammatic variant primary progressive aphasia with chorea.

Parkinsonism & related disorders

Kim EJ, Lee MJ, Lee JH, Lee YM, Shin JH, Shin MJ, Choi KU, Jung NY, Pak K, Hwang C, Ahn JW, Sung S, Spina S, Grinberg LT, Seeley WW, Huh GY

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Nature genetics

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Frontotemporal Dementia.

Neurologic clinics

Olney NT, Spina S, Miller BL

Frontotemporal dementia with the V337M MAPT mutation: Tau-PET and pathology correlations.

Neurology

Spina S, Schonhaut DR, Boeve BF, Seeley WW, Ossenkoppele R, O'Neil JP, Lazaris A, Rosen HJ, Boxer AL, Perry DC, Miller BL, Dickson DW, Parisi JE, Jagust WJ, Murray ME, Rabinovici GD

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Lancet (London, England)

Bang J, Spina S, Miller BL

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.

Nature communications

Kouri N, Ross OA, Dombroski B, Younkin CS, Serie DJ, Soto-Ortolaza A, Baker M, Finch NC, Yoon H, Kim J, Fujioka S, McLean CA, Ghetti B, Spina S, Cantwell LB, Farlow MR, Grafman J, Huey ED, Ryung Han M, Beecher S, Geller ET, Kretzschmar HA, Roeber S, Gearing M, Juncos JL, Vonsattel JP, Van Deerlin VM, Grossman M, Hurtig HI, Gross RG, Arnold SE, Trojanowski JQ, Lee VM, Wenning GK, White CL, Höglinger GU, Müller U, Devlin B, Golbe LI, Crook J, Parisi JE, Boeve BF, Josephs KA, Wszolek ZK, Uitti RJ, Graff-Radford NR, Litvan I, Younkin SG, Wang LS, Ertekin-Taner N, Rademakers R, Hakonarsen H, Schellenberg GD, Dickson DW

Presence of Epsilon HCH Together with Four Other HCH Isomers in Drinking Water, Groundwater and Soil in a Former Lindane Production Site.

Bulletin of environmental contamination and toxicology

Fuscoletti V, Achene L, Gismondi F, Lamarra D, Lucentini L, Spina S, Veschetti E, Turrio-Baldassarri L

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.

JAMA neurology

Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Rogaeva E

Cerebral hypometabolism and grey matter density in MAPT intron 10 +3 mutation carriers.

American journal of neurodegenerative disease

Deters KD, Risacher SL, Farlow MR, Unverzagt FW, Kareken DA, Hutchins GD, Yoder KK, Murrell JR, Spina S, Epperson F, Gao S, Saykin AJ, Ghetti B

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

JAMA neurology

Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, Baldwin CT, Jarvik GP, Crane PK, Rogaeva E, Barmada MM, Demirci FY, Cruchaga C, Kramer PL, Ertekin-Taner N, Hardy J, Graff-Radford NR, Green RC, Larson EB, St George-Hyslop PH, Buxbaum JD, Evans DA, Schneider JA, Lunetta KL, Kamboh MI, Saykin AJ, Reiman EM, De Jager PL, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Martin ER, Haines JL, Mayeux RP, Farrer LA, Schellenberg GD, Pericak-Vance MA

Visuoperception test predicts pathologic diagnosis of Alzheimer disease in corticobasal syndrome.

Neurology

Boyd CD, Tierney M, Wassermann EM, Spina S, Oblak AL, Ghetti B, Grafman J, Huey E

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.

Acta neuropathologica

Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B, Rohrer JD, Halliday G, Van Broeckhoven C, Seilhean D, Shaw PJ, Frosch MP, Alafuzoff I, Antonell A, Bogdanovic N, Brooks W, Cairns NJ, Cooper-Knock J, Cotman C, Cras P, Cruts M, De Deyn PP, DeCarli C, Dobson-Stone C, Engelborghs S, Fox N, Galasko D, Gearing M, Gijselinck I, Grafman J, Hartikainen P, Hatanpaa KJ, Highley JR, Hodges J, Hulette C, Ince PG, Jin LW, Kirby J, Kofler J, Kril J, Kwok JB, Levey A, Lieberman A, Llado A, Martin JJ, Masliah E, McDermott CJ, McKee A, McLean C, Mead S, Miller CA, Miller J, Munoz DG, Murrell J, Paulson H, Piguet O, Rossor M, Sanchez-Valle R, Sano M, Schneider J, Silbert LC, Spina S, van der Zee J, Van Langenhove T, Warren J, Wharton SB, White CL, Woltjer RL, Trojanowski JQ, Lee VM, Van Deerlin V, Chen-Plotkin AS

Globular glial tauopathies (GGT): consensus recommendations.

Acta neuropathologica

Ahmed Z, Bigio EH, Budka H, Dickson DW, Ferrer I, Ghetti B, Giaccone G, Hatanpaa KJ, Holton JL, Josephs KA, Powers J, Spina S, Takahashi H, White CL, Revesz T, Kovacs GG

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.

Parkinsonism & related disorders

Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Broderick D, Wszolek ZK

Phenotypic variability in three families with valosin-containing protein mutation.

European journal of neurology

Spina S, Van Laar AD, Murrell JR, Hamilton RL, Kofler JK, Epperson F, Farlow MR, Lopez OL, Quinlan J, DeKosky ST, Ghetti B

MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

Neurology

Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Borjesson-Hanson A, Tselis A, Swerdlow RH, Miller BB, Fujioka S, Heckman MG, Uitti RJ, Josephs KA, Baker M, Andersen O, Rademakers R, Dickson DW, Broderick D, Wszolek ZK

Novel late-onset Alzheimer disease loci variants associate with brain gene expression.

Neurology

Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, Lincoln S, Bisceglio G, Georgescu C, Schultz D, Rakhshan F, Kolbert CP, Jen J, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.

Human molecular genetics

Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton MK, Preza E, Lovestone S, Powell J, Graff-Radford N, Petersen RC, Boeve BF, Lippa CF, Bigio EH, Mackenzie I, Finger E, Kertesz A, Caselli RJ, Gearing M, Juncos JL, Ghetti B, Spina S, Bordelon YM, Tourtellotte WW, Frosch MP, Vonsattel JP, Zarow C, Beach TG, Albin RL, Lieberman AP, Lee VM, Trojanowski JQ, Van Deerlin VM, Bird TD, Galasko DR, Masliah E, White CL, Troncoso JC, Hannequin D, Boxer AL, Geschwind MD, Kumar S, Mandelkow EM, Wszolek ZK, Uitti RJ, Dickson DW, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Nature genetics

Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

Nature genetics

Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JS, Nowotny P, Kramer P, Hardy J, Huentelman MJ, Myers AJ, Barmada MM, Demirci FY, Baldwin CT, Green RC, Rogaeva E, St George-Hyslop P, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Cummings JL, DeCarli C, DeKosky ST, Diaz-Arrastia R, Dick M, Dickson DW, Ellis WG, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Johnson N, Karlawish J, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Lah JJ, Levey AI, Lieberman AP, Lopez OL, Mack WJ, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Parisi JE, Perl DP, Peskind E, Petersen RC, Poon WW, Quinn JF, Rajbhandary RA, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosenberg RN, Sano M, Schneider LS, Seeley W, Shelanski ML, Slifer MA, Smith CD, Sonnen JA, Spina S, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Woltjer RL, Cantwell LB, Dombroski BA, Beekly D, Lunetta KL, Martin ER, Kamboh MI, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Archives of neurology

Chen-Plotkin AS, Martinez-Lage M, Sleiman PM, Hu W, Greene R, Wood EM, Bing S, Grossman M, Schellenberg GD, Hatanpaa KJ, Weiner MF, White CL, Brooks WS, Halliday GM, Kril JJ, Gearing M, Beach TG, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Pickering-Brown SM, Snowden J, van Swieten JC, Heutink P, Seelaar H, Murrell JR, Ghetti B, Spina S, Grafman J, Kaye JA, Woltjer RL, Mesulam M, Bigio E, Lladó A, Miller BL, Alzualde A, Moreno F, Rohrer JD, Mackenzie IR, Feldman HH, Hamilton RL, Cruts M, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bird TD, Cairns NJ, Goate A, Frosch MP, Riederer PF, Bogdanovic N, Lee VM, Trojanowski JQ, Van Deerlin VM

Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease.

Journal of neurology, neurosurgery, and psychiatry

Espay AJ, Spina S, Houghton DJ, Murrell JR, de Courten-Myers GM, Ghetti B, Litvan I

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Nature genetics

Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, Rosenberg RN, White CL, Ferrer I, Lladó A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller BL, Alzualde A, Lopez de Munain A, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IR, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JP, Troncoso JC, Kril JJ, Kwok JB, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, DeCarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tuñón MT, Martínez MC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ, Lee VM

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update.

Acta neuropathologica

Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, Kovacs GG, Ghetti B, Halliday G, Holm IE, Ince PG, Kamphorst W, Revesz T, Rozemuller AJ, Kumar-Singh S, Akiyama H, Baborie A, Spina S, Dickson DW, Trojanowski JQ, Mann DM

Association of ideomotor apraxia with frontal gray matter volume loss in corticobasal syndrome.

Archives of neurology

Huey ED, Pardini M, Cavanagh A, Wassermann EM, Kapogiannis D, Spina S, Ghetti B, Grafman J

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.

Movement disorders : official journal of the Movement Disorder Society

Kovacs GG, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, Budka H, Ghetti B, Spina S

Failure to detect the presence of prions in the uterine and gestational tissues from a Gravida with Creutzfeldt-Jakob disease.

The American journal of pathology

Xiao X, Miravalle L, Yuan J, McGeehan J, Dong Z, Wyza R, MacLennan GT, Golichowski AM, Kneale G, King N, Kong Q, Spina S, Vidal R, Ghetti B, Roos K, Gambetti P, Zou WQ

Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.

Molecular neurodegeneration

Maarouf CL, Daugs ID, Spina S, Vidal R, Kokjohn TA, Patton RL, Kalback WM, Luehrs DC, Walker DG, Castaño EM, Beach TG, Ghetti B, Roher AE

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations.

Acta neuropathologica

Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, Kovacs GG, Ghetti B, Halliday G, Holm IE, Ince PG, Kamphorst W, Revesz T, Rozemuller AJ, Kumar-Singh S, Akiyama H, Baborie A, Spina S, Dickson DW, Trojanowski JQ, Mann DM

White matter tauopathy with globular glial inclusions: a distinct sporadic frontotemporal lobar degeneration.

Journal of neuropathology and experimental neurology

Kovacs GG, Majtenyi K, Spina S, Murrell JR, Gelpi E, Hoftberger R, Fraser G, Crowther RA, Goedert M, Budka H, Ghetti B

In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17.

Neuro-degenerative diseases

Ghetti B, Spina S, Murrell JR, Huey ED, Pietrini P, Sweeney B, Wassermann EM, Keohane C, Farlow MR, Grafman J

The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family.

Brain : a journal of neurology

Spina S, Farlow MR, Unverzagt FW, Kareken DA, Murrell JR, Fraser G, Epperson F, Crowther RA, Spillantini MG, Goedert M, Ghetti B

Corticobasal syndrome associated with the A9D Progranulin mutation.

Journal of neuropathology and experimental neurology

Spina S, Murrell JR, Huey ED, Wassermann EM, Pietrini P, Grafman J, Ghetti B

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

The Lancet. Neurology

Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M

Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.

Neurology

Spina S, Murrell JR, Huey ED, Wassermann EM, Pietrini P, Baraibar MA, Barbeito AG, Troncoso JC, Vidal R, Ghetti B, Grafman J

The novel Tau mutation G335S: clinical, neuropathological and molecular characterization.

Acta neuropathologica

Spina S, Murrell JR, Yoshida H, Ghetti B, Bermingham N, Sweeney B, Dlouhy SR, Crowther RA, Goedert M, Keohane C

Characteristics of frontotemporal dementia patients with a Progranulin mutation.

Annals of neurology

Huey ED, Grafman J, Wassermann EM, Pietrini P, Tierney MC, Ghetti B, Spina S, Baker M, Hutton M, Elder JW, Berger SL, Heflin KA, Hardy J, Momeni P

Aberrantly regulated proteins in frontotemporal dementia.

Biochemical and biophysical research communications

Schweitzer K, Decker E, Zhu L, Miller RE, Mirra SS, Spina S, Ghetti B, Wang M, Murrell J

Pancreas divisum and "santorinicele": diagnosis with dynamic MR cholangiopancreatography with secretin stimulation.

Radiology

Manfredi R, Costamagna G, Brizi MG, Spina S, Maresca G, Vecchioli A, Mutignani M, Marano P

[Dynamic pancreatography with magnetic resonance after functional stimulus with secretin in chronic pancreatitis].

La Radiologia medica

Manfredi R, Costamagna G, Vecchioli A, Colagrande C, Spina S, Marano P