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1. Full Text Genetic heterogeneity of motor neuropathies
by Bansagi, Boglarka and Griffin, Helen and Whittaker, Roger G and Antoniadi, Thalia and Evangelista, Teresinha and Miller, James and Greenslade, Mark and Forester, Natalie and Duff, Jennifer and Bradshaw, Anna and Kleinle, Stephanie and Boczonadi, Veronika and Steele, Hannah and Ramesh, Venkateswaran and Franko, Edit and Pyle, Angela and Lochmüller, Hanns and Chinnery, Patrick F and Horvath, Rita
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
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2. Full Text The relationship of nerve fibre pathology to sensory function in entrapment neuropathy
by Schmid, Annina B and Bland, Jeremy D. P and Bhat, Manzoor A and Bennett, David L. H
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
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3. Full Text Ataxic Guillain–Barré syndrome and acute sensory ataxic neuropathy form a continuous spectrum
by Ito, Masafumi and Matsuno, Kenjiro and Sakumoto, Yasuhiko and Hirata, Koichi and Yuki, Nobuhiro
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
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4. Full Text Towards a functional pathology of hereditary neuropathies
by Weis, Joachim and Weis, Joachim and Claeys, Kristl G and Claeys, Kristl G and Roos, Andreas and Roos, Andreas and Azzedine, Hamid and Azzedine, Hamid and Katona, Istvan and Katona, Istvan and Schröder, J Michael and Schröder, J Michael and Senderek, Jan and Senderek, Jan
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
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5. Full Text SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
by Vill, Katharina and Müller-Felber, Wolfgang and Gläser, Dieter and Kuhn, Marius and Teusch, Veronika and Schreiber, Herbert and Weis, Joachim and Klepper, Jörg and Schirmacher, Anja and Blaschek, Astrid and Wiessner, Manuela and Strom, Tim M and Dräger, Bianca and Hofmeister-Kiltz, Kristina and Tacke, Moritz and Gerstl, Lucia and Young, Peter and Horvath, Rita and Senderek, Jan
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
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6. Full Text Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
by Dierick, Ines and Baets, Jonathan and Irobi, Joy and Jacobs, An and De Vriendt, Els and Deconinck, Tine and Merlini, Luciano and Van den Bergh, Peter and Rasic, Vedrana Milic and Robberecht, Wim and Fischer, Dirk and Morales, Raul Juntas and Mitrovic, Zoran and Seeman, Pavel and Mazanec, Radim and Kochanski, Andrzej and Jordanova, Albena and Auer-Grumbach, Michaela and Helderman-van den Enden, A. T. J. M and Wokke, John H. J and Nelis, Eva and De Jonghe, Peter and Timmerman, Vincent
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
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7. Full Text Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation
by Yamashita, Satoshi and Kimura, En and Zhang, Ziwei and Tawara, Nozomu and Hara, Kentaro and Yoshimura, Akiko and Takashima, Hiroshi and Ando, Yukio
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
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8. Full Text A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR)
by Hantke, Janina and Chandler, David and King, Rosalind and Wanders, Ronald J. A and Angelicheva, Dora and Tournev, Ivailo and McNamara, Elyshia and Kwa, Marcel and Guergueltcheva, Velina and Kaneva, Radka and Baas, Frank and Kalaydjieva, Luba
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
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