A. Gkazi

发表

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Brittany N. Lasseigne, W. Chung, D. Goldstein, 2015, Science.

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.

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

Robert H. Brown, F. Baas, A. Al-Chalabi, 2018, Neurobiology of Aging.

The importance of taking ART appropriately in children and adolescents with HIV-1 to reach the highest capacity of immune function later in life

D. Gibbons, A. De Rossi, A. Gkazi, 2022, Frontiers in Immunology.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Emily A. Scarborough, J. Trojanowski, A. Pestronk, 2013 .

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

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

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

C. Shaw, Jack W Miller, S. Topp, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy

G. Giardino, F. Moretti, G. la Marca, 2021, Scientific Reports.

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

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

Long-term lymphoid progenitors independently sustain naïve T and NK cell production in humans

Elena Blanco, L. Biasco, A. Thrasher, 2021, Nature Communications.

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency

A. Pagnamenta, Jenny C. Taylor, F. Dhalla, 2021, Science advances.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Michael Benatar, Steven A Greenberg, Aaron D Gitler, 2013, Nature.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Robert H. Brown, R. Petersen, B. Boeve, 2016, Nature Communications.

Clinical T Cell Receptor Repertoire Deep Sequencing and Analysis: An Application to Monitor Immune Reconstitution Following Cord Blood Transplantation

R. Callard, B. Chain, J. Heather, 2018, Front. Immunol..

Plasticity of the Immune System in Children Following Treatment Interruption in HIV-1 Infection

C. Giaquinto, P. Palma, B. Chain, 2021, Frontiers in Immunology.

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

S. Newhouse, A. Al-Chalabi, C. Shaw, 2012, Neurobiology of Aging.

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

J. Belleroche, A. Al-Chalabi, C. Shaw, 2015, Neurobiology of Aging.

A FOXN1 mutation competitively displaces wild-type FOXN1 from higher-order nuclear condensates to cause immunodeficiency

A. Pagnamenta, Jenny C. Taylor, F. Dhalla, 2021, bioRxiv.

Genome-Wide Analyses Identify Kif5A As A Novel Als Gene

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

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

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