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ALS: Genetics

ALS: Genetics diagram by undefined

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
Nature Neuroscience

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Nature NeuroscienceNovember 27, 2019
Sali M.K. FarhanBenjamin M. Neale
395
2
3
bioRxiv

RBM45 associates with nuclear stress bodies and forms nuclear inclusions during chronic cellular stress and in neurodegenerative diseases

bioRxivNovember 27, 2019
Mahlon A CollinsRobert P Bowser
8
Annals of Neurology

ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy

Annals of NeurologyDecember 3, 2019
Rocio Nur Villar-QuilesAna Ferreiro
5
1
Nature Communications

Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD

Nature CommunicationsNovember 29, 2019
Yeliz Yuva-AydemirFen-Biao Gao
12
1
bioRxiv

Comprehensive identification of HSP70/HSC70 Chaperone Clients in Human Cells

bioRxivDecember 4, 2019
Seung W RyuTanya T. Paull
8
bioRxiv

Serial assessment of iron in the motor cortex in limb-onset Amyotrophic Lateral Sclerosis using Quantitative Susceptibility Mapping

bioRxivDecember 6, 2019
Anjan BhattaraiPhyllis Chua
7
BMJ Open

Induced pluripotent stem cell-based Drug Repurposing for Amyotrophic lateral sclerosis Medicine (iDReAM) study: protocol for a phase I dose escalation study of bosutinib for amyotrophic lateral sclerosis patients

BMJ OpenDecember 2, 2019
Keiko ImamuraHaruhisa Inoue
1
Gene Therapy

The deletion of mutant SOD1 via CRISPR/Cas9/sgRNA prolongs survival in an amyotrophic lateral sclerosis mouse model

Gene TherapyDecember 9, 2019
Weisong DuanChun-Yan Li
International Journal of Molecular Sciences

Inter-Species Differences in Regulation of the Progranulin-Sortilin Axis in TDP-43 Cell Models of Neurodegeneration

International Journal of Molecular SciencesNovember 22, 2019
Valentina GuminaAntonia Ratti
2
1
Molecular Brain

RT2 PCR array screening reveals distinct perturbations in DNA damage response signaling in FUS-associated motor neuron disease

Molecular BrainDecember 4, 2019
Hai-Bo WangMuralidhar L Hegde
5
Cell Reports

In Vivo Protein Complementation Demonstrates Presynaptic α-Synuclein Oligomerization and Age-Dependent Accumulation of 8-16-mer Oligomer Species

Cell ReportsNovember 26, 2019
Martin KiechleKarin M Danzer
43
1
Annals of Neurology

ALS with Pallido-Nigro-Luysian Degeneration: a Clinicopathological Study

Annals of NeurologyNovember 26, 2019
Junko ItoAkiyoshi Kakita
1
International Journal of Molecular Sciences

In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism

International Journal of Molecular SciencesNovember 21, 2019
Nesli-Ece SenGeorg Auburger
3
Frontiers in Genetics

Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?

Frontiers in GeneticsNovember 8, 2019
Cecilia GarciaJosep Gamez
2
1
Current Pharmaceutical Design

Neurofilament proteins as prognostic biomarkers in neurological disorders

Current Pharmaceutical DesignDecember 10, 2019
Yi-Chen LeeBak-Sau Yip
EBioMedicine

Human iPSC-derived astrocytes from ALS patients with mutated C9ORF72 show increased oxidative stress and neurotoxicity

EBioMedicineNovember 28, 2019
Anastasya BirgerBenjamin E Reubinoff
3
1
BioMed Research International

Review on Cross Talk between Neurotransmitters and Neuroinflammation in Striatum and Cerebellum in the Mediation of Motor Behaviour

BioMed Research InternationalNovember 14, 2019
Dayang Yasmin Abg Abd WahabSangu Muthuraju
Annals of Clinical and Translational Neurology

Severe white matter damage in SHANK3 deficiency: a human and translational study

Annals of Clinical and Translational NeurologyDecember 2, 2019
Sarah JesseJan Kassubek
3
Journal of Alzheimer's Disease : JAD

Could Lifetime Lead Exposure Play a Role in Limbic-predominant Age-related TDP-43 Encephalopathy (LATE)?

Journal of Alzheimer's Disease : JADDecember 3, 2019
Esme R Fuller-Thomson, ZhiDi Deng
Frontiers in Neurology

Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen

Frontiers in NeurologyNovember 7, 2019
Claudia Diana WursterRené Günther

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