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Frontiers in neurology, ISSN 1664-2295, 2019, Volume 10, p. 580
encodes calpain-1, a large subunit of μ-calpain, a calcium-activated cysteine protease widely present in the central nervous system. Mutations in have recently... 
Calpain | Adults | Research | Health aspects | Cerebellar ataxia | Paralysis, Spastic | Genetic aspects | SCA | calpain-1 | CAPN1 | HSP | hereditary spastic paraplegia | ataxia
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2019, Volume 90, Issue 10, pp. 1171 - 1179
BackgroundInherited peripheral neuropathies (IPNs) represent a broad group of genetically and clinically heterogeneous disorders, including axonal... 
SURGERY | DOMAIN | VARIANTS | PSYCHIATRY | RIMMED VACUOLES | PHOSPHATASE | SIGMAR1 | PHENOTYPE | AMYOTROPHIC-LATERAL-SCLEROSIS | CLINICAL NEUROLOGY | FAMILY | DISTAL MYOPATHY | MUTATIONS
Journal Article
Therapeutic Advances in Neurological Disorders, ISSN 1756-2856, 11/2018, Volume 11, p. 1756286418809588
Background: Ataluren was approved for the treatment of nmDMD, both the efficacy and safety have been previously reported only from clinical trials but no... 
nonsense mutation | neuromuscular disease | Duchenne muscular dystrophy | ataluren | CLINICAL NEUROLOGY | HISTORY | Age
Journal Article
Journal of Neurology, ISSN 0340-5354, 4/2019, Volume 266, Issue 4, pp. 860 - 865
The current clinical measures (ONLS, R-ODS, mRS, and MRC) may not be so sensitive in capturing minimal variations or measuring fatigue in chronic inflammatory... 
Neurology | Neurosciences | Medicine & Public Health | MCID | Fatigue | CIDP | 6MWT | Neuroradiology | EFFICACY | DISEASE | INTEROBSERVER AGREEMENT | CLINICALLY IMPORTANT DIFFERENCE | SCALE | CLINICAL NEUROLOGY | Inflammation | Demyelination | Patients
Journal Article
Neurological Sciences, ISSN 1590-1874, 10/2019, Volume 40, Issue 10, pp. 2205 - 2207
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2018, Volume 13, Issue 1, pp. 1 - 3
Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur... 
Genotype & phenotype | Maternal & child health | Transthyretin | Amyotrophic lateral sclerosis | Amyloid | Amyloidosis | Neuropathy | Mutation | Polyneuropathy | TTR | CMT2
Journal Article
Journal of the Peripheral Nervous System, ISSN 1085-9489, 12/2014, Volume 19, Issue 4, pp. 292 - 298
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 10/2018, Volume 13, Issue 1, p. 177
Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur... 
Polyneuropathy | TTR | CMT2 | MEDICINE, RESEARCH & EXPERIMENTAL | TAFAMIDIS | GENETICS & HEREDITY | PITFALLS | Diagnosis | Gene mutations | Health aspects | Charcot-Marie-Tooth disease | Amyloidosis | Neurophysiology
Journal Article
Journal of the Peripheral Nervous System, ISSN 1085-9489, 12/2014, Volume 19, Issue 4, pp. 292 - 298
Journal Article
Journal of Neurology, ISSN 0340-5354, 4/2014, Volume 261, Issue 4, pp. 804 - 808
Adult patients with Niemann-Pick disease type C (NPC) usually develop cognitive impairment progressing to dementia, whose pathophysiology remains still... 
Neurology | Neurosciences | Medicine & Public Health | Short-latency afferent inhibition | Alzheimer’s disease | SAI | Niemann-Pick disease type C | Neuroradiology | Dementia | Cognitive impairment
Journal Article
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