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ALS - Phenotypes

ALS - Phenotypes diagram by undefined

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating phenotypes associated with this genetically heterogeneous disorder.

Top 20 most recent papers
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

An ALS-associated mutation in human FUS reduces neurotransmission from C. elegans motor neurons to muscles

bioRxivNovember 30, 2019
Sebastian Matthias MarkertChristian Stigloher
5
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
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
Cells

JNK Signaling Pathway Involvement in Spinal Cord Neuron Development and Death

CellsDecember 5, 2019
Roberta SchellinoAlessandro Vercelli
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
Cells

The Impact of Kinases in Amyotrophic Lateral Sclerosis at the Neuromuscular Synapse: Insights into BDNF/TrkB and PKC Signaling

CellsDecember 5, 2019
Maria Angel LanuzaJosep Maria Tomàs
Nature Communications

Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization

Nature CommunicationsDecember 6, 2019
Ian CasciUdai Bhan Pandey
25
Cellular and Molecular Life Sciences : CMLS

Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress

Cellular and Molecular Life Sciences : CMLSDecember 4, 2019
Mark A HalloranJulie D Atkin
5
Water Research

Production of the neurotoxin beta-N-methylamino-l-alanine may be triggered by agricultural nutrients: An emerging public health issue

Water ResearchNovember 26, 2019
Yanyan Zhang, Joann K Whalen
5
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
Frontiers in Neuroscience

Lowering EphA4 Does Not Ameliorate Disease in a Mouse Model for Severe Spinal Muscular Atrophy

Frontiers in NeuroscienceNovember 19, 2019
Lindsay PoppeRobin Lemmens
6
1
Journal of Neuroengineering and Rehabilitation

Development of a new high sensitivity mechanical switch for augmentative and alternative communication access in people with amyotrophic lateral sclerosis

Journal of Neuroengineering and RehabilitationNovember 29, 2019
Marco CaligariRiccardo Colombo
Acta Neuropathologica Communications

Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases

Acta Neuropathologica CommunicationsDecember 2, 2019
Lieselot DedeeneDietmar Rudolf Thal
2
2
European Journal of Medical Genetics

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B

European Journal of Medical GeneticsNovember 23, 2019
Pascale Saugier-VeberAnnie Laquerrière
Aging and Disease

Verapamil Ameliorates Motor Neuron Degeneration and Improves Lifespan in the SOD1G93A Mouse Model of ALS by Enhancing Autophagic Flux

Aging and DiseaseDecember 1, 2019
Xiao-Jie ZhangYu Wu Zhao
1
Neuron

Relax, Don't RAN Translate It

NeuronDecember 4, 2019
Katherine M WilsonAdrian M. Isaacs
23

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