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ALS: Genetics

ALS: Genetics diagram by BlueRingMedia, Shutterstock
BlueRingMedia, Shutterstock

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Top 20 most recent papers
Acta Neuropathologica

Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

Acta NeuropathologicaJanuary 18, 2020
Helen LingTamas Revesz
4
Neurology

ALS phenotype is influenced by age, sex, and genetics: A population-based study

NeurologyJanuary 8, 2020
Adriano ChiòAndrea Calvo
12
1
Alzheimer's & Dementia : the Journal of the Alzheimer's Association

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

Alzheimer's & Dementia : the Journal of the Alzheimer's AssociationJanuary 9, 2020
Eliana Marisa RamosGiovanni Coppola
1
1
Annals of Neurology

Life course adiposity and amyotrophic lateral sclerosis: a Mendelian randomization study

Annals of NeurologyJanuary 10, 2020
Linjing ZhangDongsheng Fan
1
bioRxiv

Species-specific developmental timing is associated with global differences in protein stability in mouse and human

bioRxivDecember 31, 2019
Teresa RayonJames Briscoe
257
Journal of Neurology, Neurosurgery, and Psychiatry

Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes

Journal of Neurology, Neurosurgery, and PsychiatryJanuary 16, 2020
Lucas VuRobert Bowser
3
1
bioRxiv

Estimating the rate of cell type degeneration from epigenetic sequencing of cell-free DNA

bioRxivJanuary 16, 2020
Christa CaggianoNoah Zaitlen
28
bioRxiv

Genetic ablation of SOD1G37R selectively from corticofugal projection neurons protects corticospinal neurons from degeneration without affecting ALS onset and progression

bioRxivJanuary 10, 2020
Jelena Scekic-ZahirovicCaroline Rouaux
3
Journal of Neuropathology and Experimental Neurology

Neuropathology of Speech Network Distinguishes Bulbar From Nonbulbar Amyotrophic Lateral Sclerosis

Journal of Neuropathology and Experimental NeurologyJanuary 18, 2020
Sanjana ShellikeriYana Yunusova
Revue neurologique

Pre-symptomatic diagnosis in ALS

Revue neurologiqueJanuary 15, 2020
P Corciaon Behalf the FILSLAN network
1
The European Journal of Neuroscience

The influence of metallothionein treatment and treadmill running exercise on disease onset and survival in SOD1G93A amyotrophic lateral sclerosis mice

The European Journal of NeuroscienceJanuary 19, 2020
Katherine Ea LewisMeng Inn Chuah
bioRxiv

Variant-specific changes in persistent or resurgent Na+ current in SCN8A-EIEE13 iPSC-derived neurons

bioRxivJanuary 18, 2020
Andrew M TidballJack M Parent
Journal of Neurology, Neurosurgery, and Psychiatry

Chitinases, neuroinflammation and biomarkers in ALS

Journal of Neurology, Neurosurgery, and PsychiatryJanuary 16, 2020
Michael Swash
1
Trends in Genetics : TIG

Omics in Neurodegenerative Disease: Hope or Hype?

Trends in Genetics : TIGJanuary 15, 2020
Maria E Diaz-Ortiz, Alice S Chen-Plotkin
28
1
Nature Communications

TDP-43 facilitates milk lipid secretion by post-transcriptional regulation of Btn1a1 and Xdh

Nature CommunicationsJanuary 19, 2020
Limin ZhaoBaowei Jiao
JAMA Neurology

Safety and Efficacy of RimabotulinumtoxinB for Treatment of Sialorrhea in Adults: A Randomized Clinical Trial

JAMA NeurologyJanuary 14, 2020
Stuart H IsaacsonMYSTICOL Study Group
8
1
Bioorganic & Medicinal Chemistry Letters

Development of novel small molecules for the treatment of ALS

Bioorganic & Medicinal Chemistry LettersJanuary 14, 2020
Bini MathewMark J Suto
1
Cells

VAPB ER-Aggregates, A Possible New Biomarker in ALS Pathology

CellsJanuary 16, 2020
Maria Piera L CadoniGrazia Galleri
1
Journal of Speech, Language, and Hearing Research : JSLHR

Automated Acoustic Analysis of Oral Diadochokinesis to Assess Bulbar Motor Involvement in Amyotrophic Lateral Sclerosis

Journal of Speech, Language, and Hearing Research : JSLHRJanuary 16, 2020
Panying Rong
1
Journal of Biomolecular Structure & Dynamics

Effect of Tetracycline family of antibiotics on actin aggregation, resulting in the formation of Hirano bodies responsible for neuropathological disorders

Journal of Biomolecular Structure & DynamicsJanuary 18, 2020
Samridhi PathakAvinash Kale
2

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