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Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.
- Published in:
- Cerebellum, 2023, v. 22, n. 4, p. 578, doi. 10.1007/s12311-021-01360-6
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- Publication type:
- Article
Clinical and electrophysiological parameters distinguishing acute-onset chronic inflammatory demyelinating polyneuropathy from acute inflammatory demyelinating polyneuropathy.
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- Muscle & Nerve, 2010, v. 41, n. 2, p. 202, doi. 10.1002/mus.21480
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- Publication type:
- Article
Severe infantile axonal neuropathy with respiratory failure.
- Published in:
- 2001
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- Publication type:
- journal article
Impact of plasma exchange on indices of demyelination in chronic inflammatory demyelinating polyradiculoneuropathy.
- Published in:
- 2000
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- Publication type:
- journal article
Introduction.
- Published in:
- Muscle & Nerve, 2000, v. 23, n. S9, p. S1, doi. 10.1002/1097-4598(2000)999:9<::AID-MUS1>3.0.CO;2-X
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- Publication type:
- Article
Clinical and pathological observations in men lacking the gap junction protein connexin 32.
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- Muscle & Nerve, 2000, v. 23, n. S9, p. S39, doi. 10.1002/1097-4598(2000)999:9<::AID-MUS8>3.0.CO;2-C
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- Publication type:
- Article
Modification of CMT1 Phenotypes by the Independent Coexisting Neurogenetic Disorders, McArdle Disease and Chromosome 5p Trisomy.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 472, doi. 10.1111/j.1749-6632.1999.tb08614.x
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- Publication type:
- Article
Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 366, doi. 10.1111/j.1749-6632.1999.tb08598.x
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- Publication type:
- Article
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
- Published in:
- 2014
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- Publication type:
- journal article
Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1009, doi. 10.1093/brain/awu012
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- Publication type:
- Article
Central and peripheral respiratory electrophysiological studies in myotonic dystrophy.
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- Brain: A Journal of Neurology, 1996, v. 119, n. 6, p. 1911, doi. 10.1093/brain/119.6.1911
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- Publication type:
- Article
Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis.
- Published in:
- Acta Neuropathologica, 2001, v. 101, n. 2, p. 129, doi. 10.1007/s004010000275
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- Publication type:
- Article
Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity.
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- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 11, p. 876, doi. 10.1002/acn3.362
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- Publication type:
- Article
Hereditary Motor and Sensory Neuropathy: HMSN Type II (Neuronal Type) and X-linked HMSN.
- Published in:
- Brain Pathology, 1993, v. 3, n. 2, p. 147, doi. 10.1111/j.1750-3639.1993.tb00739.x
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- Publication type:
- Article
Familial cortical myoclonus with a mutation in NOL3.
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- Annals of Neurology, 2012, v. 72, n. 2, p. 175, doi. 10.1002/ana.23666
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- Publication type:
- Article
Placebo-controlled trial of rituximab in IgM anti-myelin-associated glycoprotein antibody demyelinating neuropathy.
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- Annals of Neurology, 2009, v. 65, n. 3, p. 286, doi. 10.1002/ana.21577
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- Publication type:
- Article
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
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- Human Molecular Genetics, 2014, v. 23, n. 18, p. 4758, doi. 10.1093/hmg/ddu190
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- Publication type:
- Article
Development of myelinated nerve fibers in the sixth cranial nerve of the rat: A quantitative electron microscope study.
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- Journal of Comparative Neurology, 1987, v. 260, n. 4, p. 491, doi. 10.1002/cne.902600403
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- Publication type:
- Article
Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant.
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- European Heart Journal, 2012, v. 33, n. 9, p. 1120, doi. 10.1093/eurheartj/ehr383
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- Publication type:
- Article
Randomized trials of dichlorphenamide in the periodic paralyses.
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- Annals of Neurology, 2000, v. 47, n. 1, p. 46, doi. 10.1002/1531-8249(200001)47:1<46::AID-ANA9>3.0.CO;2-H
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- Publication type:
- Article
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency.
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- Annals of Neurology, 1982, v. 12, n. 1, p. 33, doi. 10.1002/ana.410120106
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- Publication type:
- Article
Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.
- Published in:
- Human Mutation, 1996, v. 7, n. 2, p. 167, doi. 10.1002/(SICI)1098-1004(1996)7:2<167::AID-HUMU14>3.0.CO;2-0
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- Publication type:
- Article
Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison.
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- Journal of the Peripheral Nervous System, 2015, v. 20, n. 3, p. 289, doi. 10.1111/jns.12118
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- Publication type:
- Article
Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses.
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- Journal of the Peripheral Nervous System, 2015, v. 20, n. 3, p. 277, doi. 10.1111/jns.12127
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- Publication type:
- Article
A controlled trial of intravenous immunoglobulin in multifocal motor neuropathy.
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- Journal of the Peripheral Nervous System, 2013, v. 18, n. 4, p. 321, doi. 10.1111/jns5.12046
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- Publication type:
- Article
Chronic inflammatory demyelinating polyneuropathy disease activity status: recommendations for clinical research standards and use in clinical practice.
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- Journal of the Peripheral Nervous System, 2010, v. 15, n. 4, p. 326, doi. 10.1111/j.1529-8027.2010.00284.x
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- Publication type:
- Article
Response to comment on European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy.
- Published in:
- 2006
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- Publication type:
- Letter
European Federation of Neurological Societies/Peripheral Nerve Society Guideline.
- Published in:
- Journal of the Peripheral Nervous System, 2005, v. 10, n. 3, p. 220, doi. 10.1111/j.1085-9489.2005.10302.x
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- Publication type:
- Article
Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.
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- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 11, p. 926, doi. 10.1002/acn3.126
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- Publication type:
- Article
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.
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- Human Molecular Genetics, 1995, v. 4, n. 2, p. 279
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- Publication type:
- Article
Antigalactocerebroside antibody increases demyelination in adoptive transfer experimental allergic neuritis.
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- Muscle & Nerve, 1993, v. 16, n. 11, p. 1174, doi. 10.1002/mus.880161106
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- Publication type:
- Article
Electrophysiological changes in the acute 'axonal' form of Guillain-Barre syndrome.
- Published in:
- Muscle & Nerve, 1993, v. 16, n. 2, p. 200, doi. 10.1002/mus.880160214
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- Publication type:
- Article