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Neurology, ISSN 0028-3878, 03/2017, Volume 88, Issue 13, pp. 1226 - 1234
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Middle Aged | Family Health | Male | Mitochondrial Proteins - genetics | Charcot-Marie-Tooth Disease - genetics | Young Adult | Hereditary Sensory and Motor Neuropathy - physiopathology | DNA Mutational Analysis | England - epidemiology | Adult | Female | Charcot-Marie-Tooth Disease - epidemiology | Electromyography | Neural Conduction - genetics | Connexins - genetics | Mutation - genetics | Myelin Proteins - genetics | Genetic Heterogeneity | Analysis of Variance | GTP Phosphohydrolases - genetics | Adolescent | Aged | Charcot-Marie-Tooth Disease - physiopathology | Cohort Studies | Hereditary Sensory and Motor Neuropathy - epidemiology | Index Medicus | Abridged Index Medicus | 283 | 181 | 285
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 12/2014, Volume 137, Issue 12, pp. 3186 - 3199
Skin biopsy | Carpal tunnel syndrome | Entrapment neuropathy | Nodes of Ranvier | Quantitative sensory testing | Small fibres | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Injuries of the nervous system and the skull. Diseases due to physical agents | Neurology | Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction | Biological and medical sciences | Medical sciences | Traumas. Diseases due to physical agents | Nervous system (semeiology, syndromes) | Nerve Fibers - pathology | Hereditary Sensory and Motor Neuropathy - pathology | Arthrogryposis - physiopathology | Humans | Middle Aged | Carpal Tunnel Syndrome - physiopathology | Male | Neural Conduction - physiology | Median Nerve - pathology | Pain - pathology | Carpal Tunnel Syndrome - pathology | Hereditary Sensory and Motor Neuropathy - physiopathology | Biopsy | Pain - physiopathology | Median Nerve - physiopathology | Aged, 80 and over | Skin - innervation | Adult | Female | Aged | Arthrogryposis - pathology | Skin - pathology | Index Medicus | Abridged Index Medicus | small fibres | nodes of Ranvier | carpal tunnel syndrome | Original | entrapment neuropathy | skin biopsy | quantitative sensory testing
Journal Article
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 03/2011, Volume 82, Issue 3, pp. 294 - 299
Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction | Neurology | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Miller Fisher Syndrome - pathology | Hereditary Sensory and Motor Neuropathy - pathology | Humans | Middle Aged | Muscle Spindles - immunology | Child, Preschool | Male | Atrophy | Young Adult | Hereditary Sensory and Motor Neuropathy - cerebrospinal fluid | Hereditary Sensory and Motor Neuropathy - physiopathology | Rats, Wistar - immunology | Muscle Spindles - pathology | Sensory Receptor Cells - physiology | Aged, 80 and over | Adult | Female | Retrospective Studies | Demyelinating Diseases - pathology | Child | Nerve Fibers - pathology | Rats | Miller Fisher Syndrome - diagnosis | Miller Fisher Syndrome - cerebrospinal fluid | Miller Fisher Syndrome - physiopathology | Hereditary Sensory and Motor Neuropathy - diagnosis | Animals | Adolescent | Aged | Development and progression | Ataxia | Diagnosis | Research | Guillain-Barre syndrome | Miller Fisher syndrome | Index Medicus
Journal Article
Acta neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 493 - 515
Pathology | Neurosciences | Chemotherapy | Medicine & Public Health | Charcot–Marie–Tooth disease (CMT) | Hereditary sensory and motor neuropathy (HMSN) | Inflammatory neuropathy | Hereditary sensory and autonomic neuropathy (HSAN) | Hereditary motor neuropathy (HMN) | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Hereditary Sensory and Motor Neuropathy - physiopathology | Animals | Hereditary Sensory and Motor Neuropathy - pathology | Hereditary Sensory and Motor Neuropathy - drug therapy | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Gene mutations | Genetic aspects | Index Medicus
Journal Article
Human genetics, ISSN 0340-6717, 12/2018, Volume 137, Issue 11, pp. 911 - 919
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ataxia - physiopathology | Genes, Recessive - genetics | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Male | Cerebellum - physiopathology | Heat-Shock Proteins - genetics | Homozygote | Magnetic Resonance Imaging | Hereditary Sensory and Motor Neuropathy - physiopathology | Pedigree | Female | Mutation | Ataxia - genetics | Genetic aspects | Genetic screening | Neurophysiology | Cerebellum | Neuroimaging | Cerebellar ataxia | Spasticity | Retina | Polyneuropathy | Peripheral neuropathy | Atrophy | Nerve conduction | Magnetic resonance imaging | Biopsy | Demyelination | Ataxia | Index Medicus
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 5/2008, Volume 131, Issue 5, pp. 1217 - 1227
BSCL2 | SETX | HSPB1 | HSPB8 | Distal HMN | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurological Impairments | Psychomotor Skills | Correlation | Screening Tests | Brazil | Genetics | Foreign Countries | Evaluation Methods | Patients | Clinical Diagnosis | Diseases | Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction | Neurology | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Haplotypes | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | Electrophysiology | GTP-Binding Protein gamma Subunits - genetics | Genotype | Male | Chromosomes, Human, Pair 11 - genetics | Mutation, Missense | Heat-Shock Proteins - genetics | Hereditary Sensory and Motor Neuropathy - physiopathology | Phenotype | Pedigree | Base Sequence | Female | Mosaicism | RNA Helicases - genetics | HSP27 Heat-Shock Proteins | Neoplasm Proteins - genetics | Index Medicus | Abridged Index Medicus
Journal Article
Muscle & nerve, ISSN 0148-639X, 12/2019, Volume 60, Issue 6, pp. 739 - 744
hereditary motor and sensory neuropathy with proximal predominance (HMSN‐P) | TRK‐fused gene (TFG) | p62 | TDP‐43 | myopathic change | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Hereditary Sensory and Motor Neuropathy - pathology | Hereditary Sensory and Motor Neuropathy - diagnostic imaging | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Middle Aged | Muscular Atrophy - pathology | Male | Neural Conduction | Action Potentials | DNA-Binding Proteins - metabolism | Proteins - genetics | Magnetic Resonance Imaging | Hereditary Sensory and Motor Neuropathy - physiopathology | Pedigree | Muscle, Skeletal - diagnostic imaging | Fluorescent Antibody Technique | Muscle Fibers, Skeletal - pathology | Female | Sarcoplasmic Reticulum - metabolism | Muscle, Skeletal - pathology | RNA-Binding Proteins - metabolism | Siblings | Immunohistochemistry | Pathology | Phenotypes | Motor neuron diseases | Biopsy | Muscles | Heredity | Mutation | Neuropathy | Protein interaction | Skeletal muscle | Index Medicus
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 2009, Volume 17, Issue 12, pp. 1606 - 1614
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Human | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Population genetics, reproduction patterns | Immunohistochemistry | Physical Chromosome Mapping | Alternative Splicing - genetics | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Exons - genetics | 5' Untranslated Regions - genetics | Mutation - genetics | Peripheral Nerves - pathology | Peripheral Nerves - physiopathology | Hereditary Sensory and Motor Neuropathy - enzymology | Hereditary Sensory and Motor Neuropathy - physiopathology | Animals | Nervous System Physiological Phenomena | Mice | Protein Biosynthesis - genetics | Hexokinase - genetics | Index Medicus | CMT disease | Gypsy founder mutations | HMSNR, Hexokinase 1
Journal Article