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Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 06/2019, Volume 38, Issue 1, p. 8
Tripartite motif-containing protein 32 ( ) is a member of the TRIM ubiquitin E3 ligases which ubiquitinates different substrates in muscle including sarcomeric... 
Journal Article
Annals of Neurology, ISSN 0364-5134, 07/2019, Volume 86, Issue 1, pp. 55 - 67
Objective Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve... 
RECESSIVE HEREDITARY MOTOR | GENE | PHOSPHATASE-ACTIVITY | MISSENSE MUTATION | FRAMESHIFT MUTATION | SBF2 MUTATION | SENSORY NEUROPATHY | IDENTIFICATION | NEUROSCIENCES | ONSET | CLINICAL NEUROLOGY | PSEUDOPHOSPHATASE | Glaucoma | Medical research | Conduction | Phenotypes | Myelin | Muscles | Heredity | Neuropathy | Regression analysis | Patients | Proteins | Nerve conduction | Wheelchairs | Charcot-Marie-Tooth disease | Mutation | Age
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 03/2019, Volume 398, pp. 75 - 78
Variants in Filamin C (FLNC) gene may cause either cardiomyopathies or different myopathies. We describe a family affected by a distal myopathy with autosomal... 
Distal myopathy | Myofibrillar myopathy | NGS | FLNC | Filamin C | Hereditary myopathy | NEUROSCIENCES | CLINICAL NEUROLOGY | Neurosciences | Anopheles | Actin | Creatine kinase | Genetic aspects | Muscle proteins | Creatine | Protein binding
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 Cardiovascular Translational Research, ISSN 1937-5387, 2019
Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m)... 
Tyr78Phe | Amyloid cardiomyopathy | Amyloidosis | Transthyretin familial amyloid polyneuropathy | Transthyretin
Journal Article
Journal of Clinical Neurology (Korea), ISSN 1738-6586, 01/2018, Volume 14, Issue 1, pp. 98 - 99
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 11/2010, Volume 5, Issue 11, pp. 1946 - 1953
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 11/2013, Volume 23, Issue 11, pp. 902 - 906
CharcotaMarieaTooth type 1A (CMT1A) is the most common inherited neuropathy. The phenotype of patients affected by CMT1A is highly variable and may be... 
Diabetes mellitus
Journal Article
Cancer Prevention Research, ISSN 1940-6207, 08/2018, Volume 11, Issue 8, pp. 503 - 510
Journal Article