M. Dejesus-Hernandez

发表

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

D. Geschwind, B. Miller, M. Mesulam, 2010, Neurology.

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

Bruce L. Miller, William W. Seeley, Adam L. Boxer, 2011, Neuron.

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

Kevin F. Bieniek, L. Petrucelli, D. Dickson, 2013, Neuron.

Ataxin-2 repeat-length variation and neurodegeneration.

B. Miller, R. Petersen, B. Boeve, 2011, Human molecular genetics.

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

H. Feldman, G. Hsiung, I. Mackenzie, 2012, Brain : a journal of neurology.

Clinical and pathological features of familial frontotemporal dementia caused by C 9 ORF 72 mutation on chromosome 9 p

H. Feldman, G. Hsiung, I. Mackenzie, 2012 .

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

L. Petrucelli, M. Murray, D. Dickson, 2018, Acta Neuropathologica Communications.

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

Kevin F. Bieniek, B. Miller, C. Geula, 2019, Acta Neuropathologica.

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

C. Jack, J. Gunter, R. Petersen, 2012, Brain : a journal of neurology.

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

Kevin F. Bieniek, D. Geschwind, M. Mesulam, 2013, Neurology.

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

A. Eisen, I. Mackenzie, M. Baker, 2012, Acta Neuropathologica.

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

Kevin F. Bieniek, M. Mesulam, L. Petrucelli, 2014, Acta Neuropathologica.

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

R. Petersen, B. Boeve, D. Knopman, 2012, Neurobiology of Aging.

How do C9ORF72 repeat expansions cause ALS and FTD: can we learn from other non-coding repeat expansion disorders?

M. Dejesus-Hernandez, M. Blitterswijk, R. Rademakers, 2014 .

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome.

J. Shih, R. Uitti, M. Heckman, 2013, Parkinsonism & related disorders.

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

Kevin F. Bieniek, C. Geula, M. Mesulam, 2018, The Lancet Neurology.

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

Elizabeth, Sandro, Ying-xue, 2018 .

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

L. Petrucelli, R. Petersen, B. Boeve, 2015, Acta Neuropathologica.

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis

A. Eisen, N. Graff-Radford, I. Mackenzie, 2010, Muscle & nerve.

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion

R. Petersen, R. Ivnik, B. Boeve, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis

D. Dickson, T. Golde, J. Kocerha, 2012, Molecular Neurodegeneration.

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

Z. Wszolek, N. Graff-Radford, J. Kocerha, 2010, Human mutation.

Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations

L. Petrucelli, Y. Asmann, R. Petersen, 2021, Brain : a journal of neurology.

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

L. Petrucelli, E. Thompson, J. Kachergus, 2020, Molecular Neurodegeneration.

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

Kevin F. Bieniek, L. Petrucelli, Y. Asmann, 2017, Neurology: Genetics.

Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis

R. Uitti, Z. Wszolek, N. Graff-Radford, 2012, Neurobiology of Aging.

C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

Dennis W Dickson, D. Dickson, S. Younkin, 2012, American journal of neurodegenerative disease.

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

R. Petersen, B. Boeve, D. Knopman, 2011, Nature Genetics.

Characterization of frontotemporal dementia +/- amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

R. Petersen, B. Boeve, O. Pedraza, 2012, Alzheimer's & Dementia.

Neuropsychiatric Features of C9ORF72 Mutation-Associated bvFTD and FTD-ALS (S44.004)

K. Rankin, W. Seeley, J. Yokoyama, 2012 .