Salvatore Spina, MD, PhD
Associate Professor
Neurology
School of Medicine

Grants and Projects

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• Neuropathological basis of brain network dysfunction, NIH, 2016-2021

Publications (130)

Top publication keywords:
ApraxiasSupranuclear Palsy, ProgressiveAtrophyFrontotemporal Lobar DegenerationMotor Neuron DiseaseNeurodegenerative DiseasesHydrocephalus, Normal PressureAlzheimer Diseasetau ProteinsAphasia, Primary ProgressiveAutopsyTauopathiesNeurogliaPositron-Emission TomographyFrontotemporal Dementia

• Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum.
  Brain : a journal of neurology 2024 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 …
• Large-scale network analysis of the cerebrospinal fluid proteome identifies molecular signatures of frontotemporal lobar degeneration.
  Research square 2024 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, …
• 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 2024 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
• 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 2024 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
• Demographic, clinical, biomarker, and neuropathological correlates of posterior cortical atrophy: an international cohort study and individual participant data meta-analysis.
  The Lancet. Neurology 2024 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, …

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• KIBRA repairs synaptic plasticity and promotes resilience to tauopathy-related memory loss.
  The Journal of clinical investigation 2024 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…
• Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum.
  Brain : a journal of neurology 2024 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, …
• Spatiotemporal characteristics of neurophysiological changes in patients with four-repeat tauopathies.
  Annals of clinical and translational neurology 2024 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,…
• Pathology-specific patterns of cerebellar atrophy in neurodegenerative disorders.
  Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 Chen Y, Spina S, Callahan P, Grinberg LT, Seeley WW, Rosen HJ, Kramer JH, Miller BL, Rankin KP
• Mutant tau and stress lead to downregulation of long noncoding RNA, SNHG8.
  Molecular psychiatry 2023 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 2023 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, …
• 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 2023 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…
• Disease-specific selective vulnerability and neuroimmune pathways in dementia revealed by single cell genomics.
  bioRxiv : the preprint server for biology 2023 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…
• Long non-coding RNA SNHG8 drives stress granule formation in tauopathies.
  Molecular psychiatry 2023 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 2023 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 2023 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, …
• KIBRA repairs synaptic plasticity and promotes resilience to tauopathy-related memory loss.
  bioRxiv : the preprint server for biology 2023 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…
• Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.
  Acta neuropathologica communications 2023 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,…
• 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 2023 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, …
• Prevalence, Timing, and Network Localization of Emergent Visual Creativity in Frontotemporal Dementia.
  JAMA neurology 2023 Friedberg A, Pasquini L, Diggs R, Glaubitz EA, Lopez L, Illán-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…
• Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations.
  The Journal of clinical investigation 2023 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 WW, Miller BL, Ullian EM, Krummel MF, Kriegstein AR, …
• Long non-coding RNA SNHG8 drives stress granule formation in tauopathies.
  medRxiv : the preprint server for health sciences 2023 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 2023 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 …
• Conserved gene signatures shared among MAPT mutations reveal defects in calcium signaling.
  Frontiers in molecular biosciences 2023 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 2023 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 2022 Horie K, Barthélemy 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 …
• Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia.
  Brain : a journal of neurology 2022 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…
• Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis.
  Nature communications 2022 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 2022 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 …
• Postmortem Human Dura Mater Cells Exhibit Phenotypic, Transcriptomic and Genetic Abnormalities that Impact their Use for Disease Modeling.
  Stem cell reviews and reports 2022 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
• Multi-Modal Biomarkers of Repetitive Head Impacts and Traumatic Encephalopathy Syndrome: A Clinicopathological Case Series.
  Journal of neurotrauma 2022 Asken BM, 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, …
• Caspase-6-cleaved tau is relevant in Alzheimer's disease and marginal in four-repeat tauopathies: Diagnostic and therapeutic implications.
  Neuropathology and applied neurobiology 2022 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 2022 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, …
• Diagnostic Accuracy of Magnetic Resonance Imaging Measures of Brain Atrophy Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Degeneration.
  JAMA network open 2022 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, …
• Cerebrospinal Fluid Biomarkers in Autopsy-Confirmed Alzheimer Disease and Frontotemporal Lobar Degeneration.
  Neurology 2022 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, …
• 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 2022 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 2022 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 2021 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 2021 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 2021 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…
• Comorbid neuropathological diagnoses in early versus late-onset Alzheimer's disease.
  Brain : a journal of neurology 2021 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, …
• Neuroimaging in Frontotemporal Dementia: Heterogeneity and Relationships with Underlying Neuropathology.
  Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2021 Peet BT, Spina S, Mundada N, La Joie R
• Reduced synchrony in alpha oscillations during life predicts post mortem neurofibrillary tangle density in early-onset and atypical Alzheimer's disease.
  Alzheimer's & dementia : the journal of the Alzheimer's Association 2021 Ranasinghe KG, Petersen C, Kudo K, Mizuiri D, Rankin KP, Rabinovici GD, Gorno-Tempini ML, Seeley WW, Spina S, Miller BL, Vossel K, Grinberg LT, Nagarajan SS
• Psychosis in neurodegenerative disease: differential patterns of hallucination and delusion symptoms.
  Brain : a journal of neurology 2021 Naasan G, Shdo SM, Rodriguez EM, Spina S, Grinberg L, Lopez L, Karydas A, Seeley WW, Miller BL, Rankin KP
• Genetic pleiotropy and the shared pathological features of corticobasal degeneration and progressive supranuclear palsy: a case report and a review of the literature.
  Neurocase 2021 Rini J, Asken B, Geier E, Rankin K, Kramer J, Boxer A, Miller B, Yokoyama J, Spina S
• Patterns of neuronal Rhes as a novel hallmark of tauopathies.
  Acta neuropathologica 2021 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 2021 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, …
• A novel temporal-predominant neuro-astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS-TDP.
  Brain pathology (Zurich, Switzerland) 2021 Llibre-Guerra JJ, Lee SE, Suemoto CK, Ehrenberg AJ, Kovacs GG, Karydas A, Staffaroni A, Franca Resende EP, Kim EJ, Hwang JH, Ramos EM, Wojta KJ, Pasquini L, Pang SY, Spina S, Allen IE, Kramer J, …
• Molecular characterization of selectively vulnerable neurons in Alzheimer's disease.
  Nature neuroscience 2021 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 18 F-Fluorodeoxyglucose Positron Emission Tomography in Autopsy-Confirmed Dementia.
  Annals of neurology 2020 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, …
• 18F-flortaucipir PET to autopsy comparisons in Alzheimer's disease and other neurodegenerative diseases.
  Brain : a journal of neurology 2020 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, …
• Brain volumetric deficits in MAPT mutation carriers: a multisite study.
  Annals of clinical and translational neurology 2020 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, …
• Elevated levels of extracellular vesicles in progranulin-deficient mice and FTD-GRN Patients.
  Annals of clinical and translational neurology 2020 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 Disease.
  Neurology 2020 Illán-Gala I, Lleo A, Karydas A, Staffaroni AM, Zetterberg H, Sivasankaran R, Grinberg LT, Spina S, Kramer JH, Ramos EM, Coppola G, La Joie R, Rabinovici GD, Perry DC, Gorno-Tempini ML, Seeley WW, …
• Salience Network Atrophy Links Neuron Type-Specific Pathobiology to Loss of Empathy in Frontotemporal Dementia.
  Cerebral cortex (New York, N.Y. : 1991) 2020 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 2020 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 2020 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 2020 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 …
• Diagnostic value of plasma phosphorylated tau181 in Alzheimer's disease and frontotemporal lobar degeneration.
  Nature medicine 2020 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,…
• Progressive supranuclear palsy and primary lateral sclerosis secondary to globular glial tauopathy: a case report and a practical theoretical framework for the clinical prediction of this rare pathological entity.
  Neurocase 2020 Liu AJ, Chang JE, Naasan G, Boxer AL, Miller BL, Spina S
• Language and spatial dysfunction in Alzheimer disease with white matter thorn-shaped astrocytes.
  Neurology 2020 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 2020 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 β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations.
  Acta neuropathologica communications 2019 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 2019 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 2019 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 2019 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 2019 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, …
• 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.
  Acta neuropathologica 2019 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 2019 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 2019 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 Aβ, tau, immunity and lipid processing.
  Nature genetics 2019 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, …
• Profound degeneration of wake-promoting neurons in Alzheimer's disease.
  Alzheimer's & dementia : the journal of the Alzheimer's Association 2019 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, …
• Neuropathological correlates of structural and functional imaging biomarkers in 4-repeat tauopathies.
  Brain : a journal of neurology 2019 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 2019 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
• Insights into the pathogenesis of normal-pressure hydrocephalus.
  Neurology 2019 Spina S, Laws SM
• Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
  Nature genetics 2019 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, …
• 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 2019 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 …
• Longitudinal multimodal imaging and clinical endpoints for frontotemporal dementia clinical trials.
  Brain : a journal of neurology 2019 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…
• 18F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes.
  Alzheimer's research & therapy 2019 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-…
• FDG-PET patterns associated with underlying pathology in corticobasal syndrome.
  Neurology 2019 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 2019 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 2019 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 2018 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…
• 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 2018 La 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 …
• Mixed TDP-43 proteinopathy and tauopathy in frontotemporal lobar degeneration: nine case series.
  Journal of neurology 2018 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 2018 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, …
• 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 2018 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,…
• 18 F-flortaucipir tau positron emission tomography distinguishes established progressive supranuclear palsy from controls and Parkinson disease: A multicenter study.
  Annals of neurology 2017 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, …
• ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy.
  Nature 2017 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, …
• Advancing functional dysconnectivity and atrophy in progressive supranuclear palsy.
  NeuroImage. Clinical 2017 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 2017 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 2017 Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers …
• Frontotemporal Dementia.
  Neurologic clinics 2017 Olney NT, Spina S, Miller BL
• Frontotemporal dementia with the V337M MAPT mutation: Tau-PET and pathology correlations.
  Neurology 2017 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
• Frontotemporal dementia.
  Lancet (London, England) 2015 Bang J, Spina S, Miller BL
• Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
  Nature communications 2015 Kouri N, Ross OA, Dombroski B, Younkin CS, Serie DJ, Soto-Ortolaza A, Baker M, Finch NCA, Yoon H, Kim J, Fujioka S, McLean CA, Ghetti B, Spina S, Cantwell LB, Farlow MR, Grafman J, Huey ED, Ryung Han …
• 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 2015 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 2015 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, …
• Cerebral hypometabolism and grey matter density in MAPT intron 10 +3 mutation carriers.
  American journal of neurodegenerative disease 2014 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 2014 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, …
• Visuoperception test predicts pathologic diagnosis of Alzheimer disease in corticobasal syndrome.
  Neurology 2014 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 2014 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,…
• Globular glial tauopathies (GGT): consensus recommendations.
  Acta neuropathologica 2013 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 2013 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…
• Phenotypic variability in three families with valosin-containing protein mutation.
  European journal of neurology 2012 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 2012 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, …
• Novel late-onset Alzheimer disease loci variants associate with brain gene expression.
  Neurology 2012 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, …
• 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 2012 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, …
• Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
  Nature genetics 2011 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, …
• Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
  Nature genetics 2011 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, …
• Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
  Archives of neurology 2011 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, …
• Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease.
  Journal of neurology, neurosurgery, and psychiatry 2010 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 2010 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, …
• Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update.
  Acta neuropathologica 2009 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…
• Association of ideomotor apraxia with frontal gray matter volume loss in corticobasal syndrome.
  Archives of neurology 2009 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 2009 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 2009 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 2008 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 2008 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…
• White matter tauopathy with globular glial inclusions: a distinct sporadic frontotemporal lobar degeneration.
  Journal of neuropathology and experimental neurology 2008 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 2008 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 2007 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 2007 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 2007 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, …
• Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.
  Neurology 2007 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 2006 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 2006 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 2006 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 2000 Manfredi R, Costamagna G, Brizi MG, Spina S, Maresca G, Vecchioli A, Mutignani M, Marano P
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  La Radiologia medica 1998 Manfredi R, Costamagna G, Vecchioli A, Colagrande C, Spina S, Marano P