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1978, ISBN 0444002626, Volume 5., xxii, 862
Book
Scientific reports, ISSN 2045-2322, 06/2019, Volume 9, Issue 1, pp. 8254 - 17
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the loss of upper and lower motor neurons. ALS exhibits high... 
Motor neurons | Phenotypes | Immune response | Neurodegenerative diseases | Phenotypic variations | Amyotrophic lateral sclerosis | Superoxide dismutase | Ribonucleic acid--RNA | Gene expression | Receptor activity modifying proteins | Protein folding | DNA methylation | Methylation | Twins
Journal Article
Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 1, pp. 65 - 70
Journal Article
Movement Disorders, ISSN 0885-3185, 10/2018, Volume 33, Issue 10, pp. 1662 - 1664
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 05/2017, Volume 88, Issue 5, pp. e1 - e1
ObjectivesMyotonic dystrophy is the most prevalent form of muscular dystrophy in adults. Two distinct subtypes exist; myotonic dystrophy type 1 (DM1) and... 
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 2015, Volume 127, Issue 3, pp. e11 - e11
Background and aims Machado Joseph Disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3) is an inherited neurodegenerative disorder characterized... 
Neurology
Journal Article
Journal of the Peripheral Nervous System, ISSN 1085-9489, 06/2019, Volume 24, Issue 2, pp. 224 - 229
Hereditary sensory and autonomic neuropathy type I (HSAN‐1) is an autosomal dominant sensory neuropathy occurring secondary to mutations in the SPTLC1 and... 
sphingolipids | type II juxtafoveal retinal telangiectasias | hereditary sensory and autonomic neuropathy | SPTLC1 | SERINE PALMITOYLTRANSFERASE | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | SUBUNIT | Neurons | Nerve conduction | Autonomic nervous system | Demyelination | Retina | Degeneration | Chromosome 14 | Neuropathy | Mutation
Journal Article
Neuron, ISSN 0896-6273, 05/2017, Volume 94, Issue 4, p. 931
(Neuron 94, 322–336; April 19, 2017) As a result of an author oversight in the originally published version of this article, the first name of author Kelly L.... 
Journal Article
JAMA Neurology, ISSN 2168-6149, 11/2015, Volume 72, Issue 11, pp. 1268 - 1268
The identification of the chromosome 9 open reading frame 72 (c9orf72) gene hexanucleotide repeat expansion represents a major advance in the understanding of... 
Journal Article
JAMA Neurology, ISSN 2168-6149, 01/2015, Volume 72, Issue 1, p. 49
  Abnormalities of axonal excitability characterized by upregulation of persistent sodium (Na+) conductances and reduced potassium (K+) currents have been... 
Proteins | Neurology | Membranes | Neurodegeneration | Amyotrophic lateral sclerosis | Mutation
Journal Article
Disability and Rehabilitation, ISSN 0963-8288, 11/2017, Volume 41, Issue 4, pp. 1 - 8
Aim: To investigate whether the amount and distribution of lean body mass and fat mass is associated with disease severity in adults with Charcot-Marie Tooth.... 
muscle strength | Neurodegenerative disease | muscle atrophy | fat infiltration | muscle power | EFFICACY | RESONANCE-IMAGING FEATURES | MUSCLE MASS | STRENGTH | FATTY INFILTRATION | EXERCISE | OBESITY | X-RAY ABSORPTIOMETRY | REHABILITATION | HEALTH | 1A DUPLICATION
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 2015, Volume 127, Issue 3, pp. e12 - e12
Objective Motor neuronal hyperexcitability potentially contributes to motor neuron death in amyotrophic lateral sclerosis (ALS). We aimed to reveal... 
Neurology | Neurons | Amyotrophic lateral sclerosis
Journal Article
NeuroMolecular Medicine, ISSN 1535-1084, 3/2006, Volume 8, Issue 1, pp. 123 - 130
The Charcot-Marie-Tooth (CMT) neuropathies divide into two main electrophysiological groups with slow and near normal conduction velocities corresponding to... 
Neurology | Internal Medicine | Neurosciences | Biomedicine | Charcot-Marie-Tooth neuropathy | CMT intermediate nerve conduction velocity | Gene mutations | Genes | Mutation | Axons | Nerve conduction | Reviews | Charcot-Marie-Tooth disease | Dynamin | Point mutation | Schwann cells | Neurofilaments | Neuropathy | Light effects | Chromosome 1
Journal Article
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