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Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2019, Volume 90, Issue 9, pp. 1068 - 1068
Correspondence to Dr Vinojini Vivekanandam, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK;... 
HMSN (CHARCOT-MARIE-TOOTH) | neuropathy | multiple sclerosis | Neurology | Neuromuscular diseases | Multiple sclerosis | Mutation | Patients
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 10/2019
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2018, Volume 89, Issue 10, pp. A32 - A32
BackgroundThere is currently no accurate way to determine who will need long-term immunoglobulin (IVIg) treatment in chronic inflammatory demyelinating... 
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2018, Volume 89, Issue 10, pp. A31 - A31
A 35-year-old British man based in Pakistan presented with a febrile illness, associated with hepatosplenomegaly. Salmonella paratyphi A was isolated from... 
Guillain-Barre syndrome | Salmonella
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 07/2019, Volume 90, Issue e7, pp. A27 - A28
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 03/2019, Volume 90, Issue 3, pp. e21 - e20
ObjectivesIntraneural perineurioma is a rare, benign neoplasm of peripheral nerve. The histopathological features are well defined.DesignWe describe 5 cases of... 
Pathogenesis
Journal Article
Brain, ISSN 0006-8950, 05/2019, Volume 142, Issue 5, pp. 1227 - 1241
Charcot-Marie-Tooth type 4C is a demyelinating neuropathy caused by mutations of SH3TC2. Schiza et al. report that intrathecal injection of a lentiviral vector... 
GLIOMEDIN | PROTEIN | MYELINATION | biomarkers | Schwann cells | NA+ CHANNELS | gene therapy | SPINAL-CORD | peripheral neuropathy | PLASMA-MEMBRANE | NEUROSCIENCES | CLINICAL NEUROLOGY | DELIVERY | SH3TC2 | DISEASE | MUTATIONS | Charcot-Marie-Tooth 4C disease | Original
Journal Article
Current opinion in neurology, ISSN 1350-7540, 07/2019, Volume 32, Issue 5, pp. 641 - 650
Charcot-Marie-Tooth (CMT) disease and related disorders are the commonest group of inherited neuromuscular diseases and represent a heterogeneous group of... 
Physiological aspects | Genetic aspects | Diagnosis | Charcot-Marie-Tooth disease
Journal Article
Journal of the Peripheral Nervous System, ISSN 1085-9489, 06/2018, Volume 23, Issue 2, pp. 147 - 148
Journal Article
FASEB JOURNAL, ISSN 0892-6638, 07/2019, Volume 33, Issue 7, pp. 8504 - 8518
Dynamin 2 (DNM2) is a GTP-binding protein that controls endocytic vesicle scission and defines a whole class of dynamin-dependent endocytosis, including... 
SUPERRESOLUTION | CLATHRIN-MEDIATED ENDOCYTOSIS | CELLS | clathrin | myopathy | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | SCANNING ION-CONDUCTANCE | Charcot-Marie-Tooth | CELL BIOLOGY | TRANSFERRIN RECEPTOR | FLUORESCENCE | BIOLOGY | FISSION | CAVEOLAE | caveolin | Life Sciences | Cellular Biology | Research
Journal Article
Muscle & Nerve, ISSN 0148-639X, 03/2018, Volume 57, Issue 3, pp. 388 - 394
Journal Article
Practical Neurology, ISSN 1474-7758, 06/2016, Volume 16, Issue 3, pp. 174 - 175
  [...]a significant reason for many patients not being offered accurate genetic testing is a financial one. 
Care and treatment | Usage | Genetic disorders | Analysis | Medical care | Diagnosis | Management | Genetic screening | Families & family life | Costs | Mutation | Genetic testing | Patients
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 1475-3898, 04/2018, Volume 18, Issue 2, p. 137
Introduction:Suboptimal communication between health professionals has been recognised as a significant causative factor in incidents compromising patient... 
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 10/2013, Volume 9, Issue 10, pp. 562 - 571
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 2014, Volume 85, Issue 3, pp. 245 - 245
  In the paper by Boentert et al 1 the authors report an increased incidence of obstructive sleep apnoea (OSA), restless leg syndrome (RLS) and periodic limb... 
SURGERY | SLEEP DISORDERS | PSYCHIATRY | CLINICAL NEUROLOGY | Charcot-Marie-Tooth Disease - complications | Sleep Apnea, Obstructive - etiology | Restless Legs Syndrome - etiology | Humans | Female | Male | Nocturnal Myoclonus Syndrome - etiology | Quality | Sleep deprivation | Sleep | Index Medicus
Journal Article
Journal of the Peripheral Nervous System, ISSN 1085-9489, 06/2018, Volume 23, Issue 2, pp. 147 - 148
Journal Article
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