J. Schymick

发表

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

Sonja W. Scholz, D. Hernandez, A. Singleton, 2006, The Lancet Neurology.

Genotype, haplotype and copy-number variation in worldwide human populations

Zachary A. Szpiech, Sonja W. Scholz, D. Hernandez, 2008, Nature.

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

Sonja W. Scholz, S. Bandinelli, D. Hernandez, 2009, Human molecular genetics.

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

David Heckerman, Lorne Zinman, Joanne Wuu, 2011, Neuron.

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

Sonja W. Scholz, Adriano Chiò, Gabriele Mora, 2007, The Lancet Neurology.

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

Frank Baas, Cisca Wijmenga, Lude Franke, 2008, Nature Genetics.

A genome-wide association study of sporadic ALS in a homogenous Irish population.

Orla Hardiman, D. Hernandez, S. Cronin, 2007, Human molecular genetics.

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.

A. Chiò, B. Traynor, R. Mutani, 2010, Archives of neurology.

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.

A. Chiò, B. Traynor, R. Mutani, 2010, Archives of neurology.

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort

N. Bresolin, G. Comi, S. Corti, 2011, Neurobiology of Aging.

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

A. Chiò, G. Mora, B. Traynor, 2009, Neurobiology of Aging.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2010, Neuron.

Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia

B. Traynor, J. Schymick, Jennifer Schymick, 2012, Alzheimer's Research & Therapy.

FUS mutations in sporadic amyotrophic lateral sclerosis

D. Stephan, M. Cookson, T. Dunckley, 2011, Neurobiology of Aging.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Patrizia Sola, Joanne Wuu, Michael Benatar, 2011, Neuron.

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

Janel O. Johnson, D. Hernandez, M. Nalls, 2010, Proceedings of the National Academy of Sciences.

Variable clinical severity in TANGO2 deficiency: Case series and literature review

M. Wheeler, G. Enns, T. Cowan, 2021, American journal of medical genetics. Part A.

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion.

E. Rogaeva, J. Schymick, M. Ghani, 2013, American journal of human genetics.

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

David Heckerman, Sonja W. Scholz, D. Heckerman, 2010, The Lancet Neurology.

The chromosome 9 ALS and FTD locus is probably derived from a single founder

M. Nalls, T. Peuralinna, J. Hardy, 2012, Neurobiology of Aging.

Suppression of MMP-9 by doxycycline in brain arteriovenous malformations

A. Singleton, D. Holtzman, J. Grafman, 2004, BMC neurology.

Genetics of sporadic amyotrophic lateral sclerosis.

B. Traynor, J. Schymick, K. Talbot, 2007, Human molecular genetics.

TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis

A. Singleton, J. Hardy, R. Guerreiro, 2008, PloS one.

Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis

B. Traynor, J. Schymick, Shuanglin Zhang, 2009, BMC Medical Genetics.