Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.K31K
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NEFH

NM_021076.4:p.K31K

Associated Papers

Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis.

Ms S et al.

Molecular Neurobiology, 2025

Defects in Axonal Transport in Inherited Neuropathies.

Beijer D et al.

Journal of Neuromuscular Diseases, 2019

Aproximación genética en la esclerosis lateral amiotrófica.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

Genetic approach in amyotrophic lateral sclerosis.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

Genetic rodent models of amyotrophic lateral sclerosis.

Van Den Bosch L

Journal of Biomedicine & Biotechnology, 2011

Amyotrophic lateral sclerosis: from current developments in the laboratory to clinical implications.

Cozzolino M et al.

Antioxidants & Redox Signaling, 2008

Early signs of motoneuron vulnerability in a disease model system: Characterization of transverse slice cultures of spinal cord isolated from embryonic ALS mice.

Avossa D et al.

Neuroscience, 2006

Effect of ubiquitin expression on neuropathogenesis in a mouse model of familial amyotrophic lateral sclerosis.

Gilchrist CA et al.

Neuropathology and Applied Neurobiology, 2005

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Andersen PM et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2003

Disease mechanisms revealed by transcription profiling in SOD1-G93A transgenic mouse spinal cord.

Olsen MK et al.

Annals of Neurology, 2001

Superoxide dismutase-1 mutation-related neurotoxicity in familial amyotrophic lateral sclerosis.

Shibata N et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2000

Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis.

Kong J et al.

Neuroscience Letters, 2000

Oxidative stress and motor neurone disease.

Cookson MR et al.

Brain Pathology (zurich, Switzerland), 1999

Neurofilaments and orthograde transport are reduced in ventral root axons of transgenic mice that express human SOD1 with a G93A mutation.

Zhang B et al.

The Journal of Cell Biology, 1997

Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosis.

Vechio JD et al.

Annals of Neurology, 1996

Motor neuron disease caused by mutations in superoxide dismutase 1.

Wong PC et al.

Current Opinion in Neurology, 1995

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