Yevgeniya A. Abramzon

发表

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy

Janel O. Johnson, B. Traynor, G. Hawkins, 2017, Muscle & nerve.

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

B. Traynor, Ruth Chia, P. Fratta, 2020, Frontiers in Neuroscience.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

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

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

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

Janel O. Johnson, D. Hernandez, A. Singleton, 2012, Brain : a journal of neurology.

FUS mutations in sporadic amyotrophic lateral sclerosis

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

A de novo missense mutation of the FUS gene in a “true” sporadic ALS case

A. Chiò, B. Traynor, A. Calvo, 2011, Neurobiology of Aging.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

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

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

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

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types

M. Nalls, M. Cookson, A. Chiò, 2020, Science Advances.

A genome-wide association study of myasthenia gravis.

Michael Benatar, Sonja W. Scholz, Adriano Chiò, 2015, JAMA neurology.

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

Janel O. Johnson, D. Hernandez, M. Nalls, 2011, Archives of neurology.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2019, bioRxiv.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, M. Nalls, 2012, The Lancet Neurology.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Lorne Zinman, Adriano Chiò, Richard W. Orrell, 2014, Nature Neuroscience.

Repeat expansion in C9ORF72 in Alzheimer's disease.

A. Singleton, J. Hardy, S. Bassett, 2012, The New England journal of medicine.

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease

A. Singleton, B. Traynor, A. Renton, 2012, Neurobiology of Aging.

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Sonja W. Scholz, Lilah M. Besser, Alan J. Thomas, 2021, Nature Genetics.

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

Sonja W. Scholz, Hannah A. Pliner, John D. Eicher, 2019, Annals of neurology.

Genetic analysis of neurodegenerative diseases in a pathology cohort

Sonja W. Scholz, M. Nalls, L. Ferrucci, 2019, Neurobiology of Aging.

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

F. Marrosu, A. Chiò, G. Mora, 2012, Neurobiology of Aging.

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

Sonja W. Scholz, Janel O. Johnson, A. Chiò, 2012, Neurobiology of Aging.

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

F. Marrosu, A. Chiò, G. Mora, 2012, Brain : a journal of neurology.

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Sonja W. Scholz, D. Hernandez, M. Nalls, 2017, Neurobiology of Aging.

To Dement or Not to Dement, That Is the Question.

B. Traynor, Yevgeniya A Abramzon, Yevgeniya A. Abramzon, 2016, JAMA neurology.

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

Sonja W. Scholz, Lilah M. Besser, Alan J. Thomas, 2020, bioRxiv.

AGenome-Wide Association Study ofMyasthenia Gravis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2015 .

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, M. Nalls, 2012, The Lancet Neurology.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, G. Schellenberg, 2012, The Lancet Neurology.

Genome-Wide Analyses Identify Kif5A As A Novel Als Gene

Hannah A. Pliner, F. Faghri, S. Topp, 2021 .

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

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

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Hannah A. Pliner, John D. Eicher, Janel O. Johnson, 2021, JAMA Neurology.

A genome-wide association study of myasthenia gravis.

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2015, JAMA neurology.