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Medicine, ISSN 1357-3039, 2016, Volume 44, Issue 9, pp. 557 - 562
Abstract Peripheral neuropathies are common. A specific diagnosis can be reached in 75% of cases using a detailed history and examination, neurophysiology and... 
Internal Medicine | small fibre | multifocal motor | Chronic inflammatory demyelinating polyradiculoneuropathy | vasculitis | inherited | entrapment | nerve biopsy | Guillain–Barré syndrome | neuropathy
Journal Article
Medicine, ISSN 1357-3039, 2012, Volume 40, Issue 10, pp. 546 - 552
Abstract Peripheral neuropathies are common neurological disorders. A diagnosis can be reached in 75% of cases with a detailed history and examination,... 
Internal Medicine | small fibre | multifocal motor | chronic inflammatory demyelinating polyradiculoneuropathy | vasculitis | inherited | entrapment | nerve biopsy | Guillain–Barré syndrome | neuropathy | Guillain-Barré syndrome
Journal Article
Medicine, ISSN 1357-3039, 2008, Volume 36, Issue 12, pp. 646 - 652
Abstract Peripheral neuropathies are common neurological disorders. A diagnosis can be reached in 75% of cases with a detailed history and examination,... 
Internal Medicine | small fibre | multifocal motor | chronic inflammatory demyelinating polyradiculoneuropathy | vasculitis | inherited | entrapment | nerve biopsy | Guillain–Barré syndrome | neuropathy | Guillain-Barré syndrome
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 04/2019, Volume 236, Issue 4, pp. 451 - 461
Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs... 
autosomal dominant optic atrophy | EFFICACY | ATROPHY | IDENTIFICATION | DYSTONIA | Leber's hereditary optic neuropathy (LHON) | ENCEPHALOPATHY | genetics | GENE | novel mutation | FAMILIES | OPHTHALMOLOGY | inherited optic neuropathy | DEAFNESS | DYSFUNCTION | MTDNA MUTATIONS
Journal Article
Experimental Neurology, ISSN 0014-4886, 09/2016, Volume 283, Issue Pt A, pp. 375 - 395
Inherited sensory neuropathies are caused by mutations in genes affecting either primary afferent neurons, or the Schwann cells that myelinate them. Using... 
Myelin protein zero | Sodium channels | Spinal cord | TRPA1 | Proprioception | Schwann cells | Charcot Marie Tooth | Pain channelopathy | Neuropathy | TRPV1 | Adipocytes | Gene expression | Pain | Inherited peripheral neuropathy | Transcriptomics | RNA-Seq | HSAN | Glia | Dorsal root ganglion | Sciatic nerve | MENKES DISEASE | CANDIDATE GENE | SCHWANN-CELLS | HUMAN PAIN | MUTATIONS | TRPV4 CAUSE | CONGENITAL INSENSITIVITY | LYSOPHOSPHATIDIC ACID LPA | NEUROSCIENCES | LYSYL OXIDASE ACTIVITY | Sciatic Nerve - pathology | Humans | Transcriptome | Multienzyme Complexes - metabolism | Rats | Mixed Function Oxygenases - metabolism | Schwann Cells - pathology | Chromosome Mapping | Gene Expression Profiling | Schwann Cells - metabolism | Myelin Proteins - genetics | Nerve Tissue Proteins - genetics | Rats, Sprague-Dawley | Nerve Tissue Proteins - metabolism | Sciatic Nerve - metabolism | Animals | Gene Expression - physiology | Ganglia, Spinal - pathology | Peripheral Nervous System Diseases - pathology | In Vitro Techniques | Myelin Proteins - metabolism | Peripheral Nervous System Diseases - genetics | Organ Culture Techniques | Ganglia, Spinal - metabolism | RNA sequencing | Genetic research | Gene mutations | Analysis | Genes | Anopheles | RNA | Neurons | Index Medicus | Schwann Cells | pain channelopathy | sodium channels | neurofilament | dorsal root ganglion | myelin protein zero | transcriptomics | neuropathy | spinal cord | peptidyl-alpha-amidating monooxygenase | adipocytes | gene expression | sciatic nerve | peripheral myelin protein 22
Journal Article
Medicine, ISSN 1357-3039, 2004, Volume 32, Issue 11, pp. 108 - 113
Neuropathies are a significant cause of morbidity worldwide, mainly from diabetes mellitus, HIV infection and leprosy. Many are treatable with... 
vasculitic | inherited | nerve | muscle | nerve biopsy | entrapment | GBS | spinal cord | MMNCB | CIDP | neurology | chronic axonal
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 08/2018, Volume 28, Issue 8, pp. 646 - 651
Autosomal recessive axonal neuropathy with neuromyotonia (ARAN NM) is a rare disease caused by mutations of histidine triad nucleotide binding protein 1 ( )... 
Neuromyotonia | HINT1 | Hereditary neuropathy | HEREDITARY MOTOR | ENTITY | DISEASE | PHENOTYPE | INHERITED NEUROPATHIES | CHINESE PATIENTS | NEUROSCIENCES | CLINICAL NEUROLOGY | Yuan (China) | Medical research | Analysis | Genes | Genetic research | Medicine, Experimental | Genetic aspects | Teenage girls | Protein binding
Journal Article
Journal Article
Clinical Pharmacology & Therapeutics, ISSN 0009-9236, 02/2019, Volume 105, Issue 2, pp. 315 - 317
Vincristine is a widely used anticancer drug for the treatment of leukemia, lymphoma, and many solid tumors in children and adults. A major adverse effect of... 
INHERITED GENETIC VARIANT | PHARMACOLOGY & PHARMACY
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2016, Volume 90, Issue 2, pp. 161 - 165
Journal Article