Yevgeniya A Abramzon

发表

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

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

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

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

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.

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

M. Nalls, M. Cookson, A. Chiò, 2021, Science Advances.

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

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

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

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

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

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

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.

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.

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

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

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

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

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

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

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.