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Journal of human genetics, ISSN 1434-5161, 12/2018, Volume 64, Issue 3, pp. 269 - 269
Journal Article
Neurology and clinical neuroscience, ISSN 2049-4173, 11/2020, Volume 8, Issue 6, pp. 428 - 429
Journal Article
Journal of the neurological sciences, ISSN 0022-510X, 03/2019, Volume 398, pp. 75 - 78
Distal myopathy | Myofibrillar myopathy | NGS | FLNC | Filamin C | Hereditary myopathy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Amino Acid Sequence | Humans | Middle Aged | Actins - metabolism | Male | Myopathies, Structural, Congenital - genetics | Mutation - genetics | Actins - genetics | Distal Myopathies - genetics | Filamins - metabolism | Distal Myopathies - diagnosis | Pedigree | Binding Sites - physiology | Distal Myopathies - metabolism | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - metabolism | Filamins - genetics | Anopheles | Actin | Creatine kinase | Genetic aspects | Muscle proteins | Creatine | Protein binding
Journal Article
Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Myopathies, Nemaline - genetics | Humans | Middle Aged | Child, Preschool | Respiratory Insufficiency - etiology | Infant | Male | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - complications | Myopathies, Nemaline - pathology | Young Adult | Mobility Limitation | Adult | Deglutition Disorders - etiology | Female | Retrospective Studies | Child | Myopathy, Central Core - genetics | Infant, Newborn | Cross-Sectional Studies | Scoliosis - etiology | Muscle Proteins - genetics | Myopathies, Nemaline - complications | Myopathy, Central Core - pathology | Adolescent | Myopathies, Structural, Congenital - pathology | Myopathy, Central Core - complications | Consanguinity | Muscle, Skeletal - pathology | Cohort Studies | Index Medicus | Abridged Index Medicus | 176 | 185 | 227
Journal Article
Muscle & nerve, ISSN 0148-639X, 08/2018, Volume 58, Issue 2, pp. 235 - 244
molecular genetics | core | fiber type disproportion | nemaline rods | central nuclei | congenital myopathy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Myopathies, Nemaline - genetics | Humans | Myopathies, Structural, Congenital - congenital | Child, Preschool | Infant | Male | Myopathies, Structural, Congenital - genetics | Myopathies, Nemaline - pathology | Young Adult | Adult | Female | Retrospective Studies | Myotonia Congenita - genetics | Child | Myopathy, Central Core - genetics | Republic of Korea | Myopathy, Central Core - congenital | Dynamins - genetics | Treatment Outcome | Myotonia Congenita - pathology | Muscle Proteins - genetics | Myopathy, Central Core - pathology | Ryanodine Receptor Calcium Release Channel - genetics | Adolescent | Age of Onset | Muscle Fibers, Skeletal - pathology | Myopathies, Structural, Congenital - pathology | Mutation | Medicine, Experimental | Medical research | Development and progression | Genetic disorders | Health aspects | Hypotonia | Congenital diseases | Complications | Nemaline myopathy | Ryanodine receptors | Muscles | Children | Central core disease | Patients | Myopathy | Index Medicus
Journal Article
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 04/2015, Volume 86, Issue 4, pp. 385 - 392
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Distal Myopathies - epidemiology | Distal Myopathies - therapy | Distal Myopathies - genetics | Animals | Distal Myopathies - diagnosis | Distal Myopathies - pathology | Humans | Clinical Trials as Topic | Mice | Multienzyme Complexes - genetics | Disease Models, Animal | Symptomatology | Care and treatment | Usage | Gene mutations | Analysis | Clinical trials | Muscle diseases | Diagnosis | Research | Risk factors | Proteins | Legs | Cytomegalovirus | Metabolites | Laboratories | Histology | Mutation | Metabolism | Autophagy | Patients | Index Medicus | GNE myopathy | N-acetylmannosamine (ManNAc) | distal myopathy with rimmed vacuoles | hereditary inclusion body myopathy | sialic acid
Journal Article
Human mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 915 - 926
distal myopathy with rimmed vacuoles | hereditary inclusion body myopathy | DMRV | HIBM | adult onset muscular dystrophy | GNE | Adult onset muscular dystrophy | Hereditary inclusion body myopathy | Distal myopathy with rimmed vacuoles | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Expression | Exons | Introns | Distal Myopathies - pathology | Gene Frequency | Humans | Sialic Acids - metabolism | Databases, Genetic | European Continental Ancestry Group | Muscle, Skeletal - metabolism | Multienzyme Complexes - genetics | Genetic Heterogeneity | Multienzyme Complexes - chemistry | Exome | Asian Continental Ancestry Group | Distal Myopathies - genetics | Distal Myopathies - physiopathology | Muscle, Skeletal - physiopathology | Alleles | Muscle, Skeletal - pathology | Mutation | Distal Myopathies - ethnology | Enzymes | Analysis | Genes | Genomics | Therapeutics | Physiological aspects | Genetic aspects | Population genetics | Organic acids | Homeopathy | Materia medica and therapeutics | Kinases | Index Medicus | GNE myopathy | N-acetylmannosamine (ManNAc) | sialic acid | hereditary inclusion body myopathy (HIBM) | disease prevalence | distal myopathy with rimmed vacuoles (DMRV)
Journal Article
Neurologic clinics, ISSN 0733-8619, 2014, Volume 32, Issue 3, pp. 817 - 842
Distal myopathy | Udd distal myopathy | Welander myopathy | Laing myopathy | Myofibrillar myopathy | Myoshi myopathy | Nonaka myopathy | Markesbery-Griggs myopathy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Distal Myopathies - epidemiology | Muscle Proteins - genetics | Distal Myopathies - genetics | Distal Myopathies - diagnosis | Humans | Age of Onset | Muscle, Skeletal - metabolism | Muscle, Skeletal - pathology | Mutation | Disease Progression
Journal Article
Neuromuscular disorders : NMD, ISSN 0960-8966, 2014, Volume 24, Issue 5, pp. 387 - 389
Neurology | Distal Myopathy with Rimmed Vacuoles (DMRV) | Sialic acid | UDP-GlcNAc 2-epimersa/ManNAc kinase | Hereditary Inclusion Body Myopathy (HIBM) | GNE Myopathy | Inclusion Body Myopathy 2 (IBM2) | Nonaka myopathy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Distal Myopathies - genetics | RNA Isoforms | Humans | Protein Isoforms | Databases, Genetic | Terminology as Topic | Multienzyme Complexes - genetics | Distal Myopathies - classification | Mutation | Multienzyme Complexes - chemistry | Index Medicus | sialic acid | hereditary inclusion body myopathy (HIBM) | ManNAc kinase | Distal myopathy with rimmed vacuoles DMRV | UDP-GlcNAc 2-epimersa
Journal Article
Acta neuropathologica, ISSN 0001-6322, 2017, Volume 134, Issue 6, pp. 889 - 904
Pathology | Neurosciences | Medicine & Public Health | X-linked myotubular myopathy | Congenital myopathy | X inactivation | Centronuclear myopathy | MTM1 | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | Diagnosis, Differential | Myopathies, Structural, Congenital - physiopathology | Humans | Middle Aged | Child, Preschool | Myopathies, Structural, Congenital - genetics | Phenotype | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Adolescent | Myopathies, Structural, Congenital - pathology | Adult | Female | Heterozygote | Myopathies, Structural, Congenital - diagnosis | Aged | Mutation | Child | Cohort Studies | Genetic aspects | Nucleotide sequencing | DNA sequencing | Neonates | MTM1 gene | Respiratory function | Genetic counseling | Ophthalmoplegia | X chromosomes | Females | Males | Nuclei | Myopathy | Index Medicus | Life Sciences | Cellular Biology | Santé publique et épidémiologie
Journal Article