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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
OBJECTIVE:To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of... 
NORTHERN ENGLAND | POPULATION | MUTATIONS CAUSE | SPINAL MUSCULAR-ATROPHY | PHENOTYPIC VARIABILITY | MARIE-TOOTH DISEASE | PREVALENCE | CLINICAL NEUROLOGY | 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 | 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, ISSN 0006-8950, 12/2014, Volume 137, Issue 12, pp. 3186 - 3199
Surprisingly little is known about the impact of entrapment neuropathy on target innervation and the relationship of nerve fibre pathology to sensory symptoms... 
Skin biopsy | Carpal tunnel syndrome | Entrapment neuropathy | Nodes of Ranvier | Quantitative sensory testing | Small fibres | RAT | MEDIAN NERVE | FOLLOW-UP | SYMPTOMS | CARPAL-TUNNEL-SYNDROME | COMPRESSION | NEUROSCIENCES | entrapment neuropathy | skin biopsy | CLINICAL NEUROLOGY | small fibres | nodes of Ranvier | SKIN BIOPSIES | PAIN | CERVICAL RADICULOPATHY | carpal tunnel syndrome | CONDUCTION | quantitative sensory testing | 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 | Original
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3. 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
Mutations in the SACS gene have been initially reported in a rare autosomal recessive cerebellar ataxia syndrome featuring prominent cerebellar atrophy,... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | PROTEIN | SPASTIC ATAXIA | GENE | ABNORMALITIES | CHARLEVOIX-SAGUENAY | MUTATION | GENETICS & HEREDITY | ARSACS | 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
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4. Full Text Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
by Auer-Grumbach, M and Olschewski, A and Papic, L and Kremer, J.M.J and McEntagart, M.E and Uhrig, S and Fischer, C and Frohlich, E and Balint, Z and Tang, B and Strohmaier, H and Lochmuller, H and Schlotter-Weigel, B and Senderek, J and Krebs, A and Dick, K.J and Petty, R and Longman, C and Anderson, N.E and Padberg, G.W.A.M and Schelhaas, H.J and Ravenswaaij-Arts, C.M.A. van and Pieber, T.R and Crosby, A.H and Guelly, C
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 2, pp. 160 - 164
Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and hereditary motor and sensory neuropathies (HMSN) are clinically and... 
LOCALIZATION | BIND | SPINAL MUSCULAR-ATROPHY | CATION CHANNEL | REPEAT DOMAIN | DISEASE | GENETICS & HEREDITY | TRAFFICKING | SENSITIVITY | MICE | Immunohistochemistry | Calcium - metabolism | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Muscular Atrophy, Spinal - congenital | Models, Molecular | Molecular Sequence Data | TRPV Cation Channels - chemistry | Mutant Proteins - metabolism | Ankyrin Repeat | Osmosis | Mutation - genetics | TRPV Cation Channels - genetics | Muscular Atrophy, Spinal - genetics | Hereditary Sensory and Motor Neuropathy - physiopathology | Hereditary Sensory and Motor Neuropathy - complications | Transfection | Intracellular Space - metabolism | Amino Acid Substitution - genetics | HeLa Cells | Muscular Atrophy, Spinal - complications | Ion Channel Gating | Muscular Atrophy, Spinal - physiopathology | Physiological aspects | Genetic aspects | Ion channels | Research | Neuropathies, Hereditary motor and sensory | Risk factors | Spinal muscular atrophy | Studies | Proteins | Genotype & phenotype | Medical research | Genetics
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5. Full Text Sensory-motor neuropathy in a case with SPG35: Expanding the phenotype
by Axpe, Idoia Rouco and Martín, Elisa Blanco and Ribes, Ainhoa Garcia and Bermejo-Ramirez, Rosa and Andújar, Diego Arroyo
Journal of the Neurological Sciences, ISSN 0022-510X, 2017, Volume 380, pp. 98 - 100
Neurology | GENE | FORM | FATTY-ACID 2-HYDROXYLASE | NEURODEGENERATION | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | Mixed Function Oxygenases - deficiency | Spastic Paraplegia, Hereditary - genetics | Brain - diagnostic imaging | Diagnosis, Differential | Spastic Paraplegia, Hereditary - diagnosis | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Hereditary Sensory and Motor Neuropathy - diagnosis | Hereditary Sensory and Motor Neuropathy - physiopathology | Phenotype | Adolescent | Female | Mixed Function Oxygenases - genetics | Spastic Paraplegia, Hereditary - physiopathology
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6. Full Text Compression neuropathy of common peroneal nerve caused by a popliteal cyst: A case report
by Zeng, Xiaobin and Xie, Lifeng and Qiu, Zhiqiang and Sun, Kuo
Medicine, ISSN 0025-7974, 04/2018, Volume 97, Issue 16, p. e9922
Rationale:Popliteal cyst developing in the sheath of a peripheral nerve or joint capsule may cause compression neuropathy. Although popliteal cyst is very... 
popliteal cyst | GANGLION | MEDICINE, GENERAL & INTERNAL | common peroneal nerve | Peroneal Neuropathies - diagnosis | Arthrogryposis - surgery | Peroneal Neuropathies - physiopathology | Peroneal Neuropathies - etiology | Humans | Middle Aged | Arthrogryposis - etiology | Orthopedic Procedures - methods | Magnetic Resonance Imaging - methods | Popliteal Cyst - diagnosis | Recovery of Function | Arthrogryposis - diagnosis | Hereditary Sensory and Motor Neuropathy - etiology | Hereditary Sensory and Motor Neuropathy - physiopathology | Peroneal Neuropathies - surgery | Female | Popliteal Cyst - complications | Hereditary Sensory and Motor Neuropathy - surgery | Dissection - methods | Arthrogryposis - physiopathology | Treatment Outcome | Hereditary Sensory and Motor Neuropathy - diagnosis | Decompression, Surgical - methods | Popliteal Cyst - diagnostic imaging | Electromyography - methods
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7. 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
Background Ataxic Guillain-Barre syndrome is characterised by profound ataxia with negative Romberg sign and no ophthalmoplegia. Its nosological relationship... 
SURGERY | COMPLEMENT | PSYCHIATRY | GANGLIOSIDES | CLINICAL-FEATURES | MODEL | CLINICAL NEUROLOGY | GD1B | OPHTHALMOPLEGIA | INTRAVENOUS IMMUNOGLOBULIN | MILLER-FISHER-SYNDROME | GQ1B | ANTI-GD1B IGG ANTIBODY | 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
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8. Full Text Genetic spectrum of hereditary neuropathies with onset in the first year of life
by Baets, Jonathan and Deconinck, Tine and De Vriendt, Els and Zimo, Magdalena and Yperzeele, Laetitia and Van Hoorenbeeck, Kim and Peeters, Kristien and Spiegel, Ronen and Parman, Yesim and Ceulemans, Berten and Van Bogaert, Patrick and Pou-Serradell, Adolf and Bernert, Günther and Dinopoulos, Argirios and Auer-Grumbach, Michaela and Sallinen, Satu-Leena and Fabrizi, Gian Maria and Pauly, Fernand and Van den Bergh, Peter and Bilir, Birdal and Battaloglu, Esra and Madrid, Ricardo E and Kabzi ska, Dagmara and Kochanski, Andrzej and Topaloglu, Haluk and Miller, Geoffrey and Jordanova, Albena and Timmerman, Vincent and De Jonghe, Peter
Brain, ISSN 0006-8950, 9/2011, Volume 134, Issue 9, pp. 2664 - 2676
Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct... 
genotype-phenotype correlations | Charcot-Marie-Tooth disease | congenital hypomyelinating neuropathy | early onset hereditary neuropathies | Dejerine-Sottas neuropathy | GENOTYPE-PHENOTYPE CORRELATION | DEMYELINATING POLYNEUROPATHY | MARIE-TOOTH-DISEASE | AXONAL NEUROPATHY | NEUROSCIENCES | PERIPHERAL NEUROPATHIES | CLINICAL NEUROLOGY | MYOTUBULARIN-RELATED PROTEIN-2 | MFN2 MUTATIONS | MISSENSE MUTATION | TERM-FOLLOW-UP | Hereditary Sensory and Motor Neuropathy - pathology | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Middle Aged | Child, Preschool | Infant | Charcot-Marie-Tooth Disease - pathology | Charcot-Marie-Tooth Disease - genetics | Young Adult | Hereditary Sensory and Motor Neuropathy - physiopathology | Phenotype | DNA Mutational Analysis | Adolescent | Age of Onset | Adult | Aged | Charcot-Marie-Tooth Disease - physiopathology | Mutation | Child | Cohort Studies | Charcot–Marie–Tooth disease | Dejerine–Sottas neuropathy | Original | genotype–phenotype correlations
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9. Full Text HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum
by Gess, Burkhard and Auer-Grumbach, Michaela and Schirmacher, Anja and Strom, Tim and Zitzelsberger, Manuela and Rudnik-Schöneborn, Sabine and Röhr, Dominik and Halfter, Hartmut and Young, Peter and Senderek, Jan
Neurology, ISSN 0028-3878, 11/2014, Volume 83, Issue 19, pp. 1726 - 1732
OBJECTIVES:To determine the nature and frequency of HSJ1 mutations in patients with hereditary motor and hereditary motor and sensory neuropathies.... 
MARIE-TOOTH-DISEASE | HSJ1 | SPINAL MUSCULAR-ATROPHY | PHENOTYPE | MOTOR-NEURON DISEASE | PEDIGREE | BICD2 | CLINICAL NEUROLOGY | FAMILY | Action Potentials - genetics | Hereditary Sensory and Motor Neuropathy - pathology | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Family Health | Male | Charcot-Marie-Tooth Disease - genetics | Austria | Hereditary Sensory and Motor Neuropathy - physiopathology | Cell Cycle Proteins - genetics | Female | Electromyography | Nuclear Proteins - genetics | Genetic Linkage | Genetic Predisposition to Disease - genetics | HSP40 Heat-Shock Proteins - genetics | Neural Conduction - genetics | Molecular Chaperones - genetics | Genotype | Charcot-Marie-Tooth Disease - pathology | Mutation - genetics | Sequence Analysis, DNA | Phenotype | Adaptor Proteins, Signal Transducing - genetics | Charcot-Marie-Tooth Disease - physiopathology | Germany
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10. Full Text Genetic dysfunction of MT-ATP6 causes axonal charcot-Marie-Tooth disease
by Pitceathly, Robert D.S and Murphy, Sinéad M and Cottenie, Ellen and Chalasani, Annapurna and Sweeney, Mary G and Woodward, Cathy and Mudanohwo, Ese E and Hargreaves, Iain and Heales, Simon and Land, John and Holton, Janice L and Houlden, Henry and Blake, Julian and Champion, Michael and Flinter, Frances and Robb, Stephanie A and Page, Rupert and Rose, Michael and Palace, Jacqueline and Crowe, Carol and Longman, Cheryl and Lunn, Michael P and Rahman, Shamima and Reilly, Mary M and Hanna, Michael G
Neurology, ISSN 0028-3878, 09/2012, Volume 79, Issue 11, pp. 1145 - 1154
Objective: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting 1 in 2,500 individuals. Mitochondrial DNA (mtDNA)... 
DIAGNOSIS | MUTANT | LEIGH-SYNDROME | ABNORMALITIES | MTATP6 GENE | MUTATION | PHENOTYPE | PERIPHERAL NEUROPATHY | MITOCHONDRIAL-DNA | CLINICAL NEUROLOGY | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Middle Aged | DNA, Mitochondrial | Genotype | Male | Charcot-Marie-Tooth Disease - genetics | Mitochondrial Proton-Translocating ATPases - genetics | Hereditary Sensory and Motor Neuropathy - physiopathology | Pedigree | Adolescent | Aged, 80 and over | Adult | Female | Charcot-Marie-Tooth Disease - physiopathology | Mutation | Child
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11. Full Text Novel loss‐of‐function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia
by Boaretto, Francesca and Cacciavillani, Mario and Mostacciuolo, Maria Luisa and Spalletta, Ambra and Piscosquito, Giuseppe and Pareyson, Davide and Vazza, Giovanni and Briani, Chiara
Muscle & Nerve, ISSN 0148-639X, 10/2015, Volume 52, Issue 4, pp. 688 - 689
NEUROSCIENCES | CLINICAL NEUROLOGY | Hereditary Sensory and Motor Neuropathy - physiopathology | Neural Conduction - genetics | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Adult | Male | Mutation - genetics | Nerve Tissue Proteins - genetics
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12. Full Text Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation
by Frasquet, M and Chumillas, M J and Vílchez, J J and Márquez-Infante, C and Palau, F and Vázquez-Costa, J F and Lupo, V and Espinós, C and Sevilla, T
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2016, Volume 87, Issue 11, pp. 1265 - 1268
Als | Hmsn (Charcot-Marie-Tooth) | Spinal Muscular Atro | Parkinson's Disease | SURGERY | PSYCHIATRY | CLINICAL NEUROLOGY | CLINICAL SPECTRUM | Hereditary Sensory and Motor Neuropathy - pathology | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Middle Aged | Male | Neural Conduction | Charcot-Marie-Tooth Disease - pathology | Mutation - genetics | Charcot-Marie-Tooth Disease - genetics | Spain | Heat-Shock Proteins - genetics | Hereditary Sensory and Motor Neuropathy - physiopathology | Phenotype | Adaptor Proteins, Signal Transducing - genetics | Cell Cycle Proteins - genetics | Adult | Female | Charcot-Marie-Tooth Disease - physiopathology | Nuclear Proteins - genetics
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13. Full Text An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP)
by Vrinten, Charlotte and Gu, Xin and Weinreich, Stephanie S and Schipper, Mirjam H and Wessels, Judith and Ferrari, Michel D and Hoijtink, Herbert and Verschuuren, Jan J G M
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 07/2016, Volume 87, Issue 7, pp. 790 - 791
  The conditions may be difficult to distinguish, because their clinical presentation may be similar, and electrophysiology or nerve biopsy studies can be... 
1A | SURGERY | DEMYELINATING POLYNEUROPATHY | TRIALS | MANAGEMENT | PSYCHIATRY | CLINICAL NEUROLOGY | Humans | Arthrogryposis - immunology | Hereditary Sensory and Motor Neuropathy - drug therapy | Inflammation - etiology | Myelin Proteins - genetics | Hereditary Sensory and Motor Neuropathy - diagnosis | Hereditary Sensory and Motor Neuropathy - physiopathology | Hereditary Sensory and Motor Neuropathy - complications | Immunoglobulins, Intravenous - therapeutic use | Arthrogryposis - drug therapy | Adult | Female | Hereditary Sensory and Motor Neuropathy - immunology | Immunoglobulins | Hypotheses | Inflammation | Pain | Patients | Quality of life | Index Medicus | RANDOMISED TRIALS | PERIPHERAL NEUROPATHOLOGY | QUALITY OF LIFE | STATISTICS | 1506 | PostScript
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14. 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, ISSN 1018-4813, 2009, Volume 17, Issue 12, pp. 1606 - 1614
Hereditary Motor and Sensory Neuropathy -- Russe (HMSNR) is a severe autosomal recessive disorder, identified in the Gypsy population. Our previous studies... 
MAMMALIAN HEXOKINASE | MARIE-TOOTH-DISEASE | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | SCHWANN-CELL PROLIFERATION | HMSNR | CMT disease | NONSPHEROCYTIC HEMOLYTIC-ANEMIA | AUTOSOMAL RECESSIVE FORMS | Hexokinase 1 | MESSENGER-RNA | GENE | ADULT-RAT | GENETICS & HEREDITY | PERIPHERAL NEUROPATHY | Gypsy founder mutations | 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 | HMSNR, Hexokinase 1
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