Found: 12
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Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 6, p. 1003, doi. 10.1007/s10072-014-2050-8
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- Publication type:
- Article
Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 2, p. 164, doi. 10.1002/mus.21872
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- Publication type:
- Article
Rare among Rare: Phenotypes of Uncommon CMT Genotypes.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 12, p. 1616, doi. 10.3390/brainsci11121616
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- Publication type:
- Article
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 10, p. 5668, doi. 10.1007/s00415-022-11184-x
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- Publication type:
- Article
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 11, p. 4280, doi. 10.1007/s00415-021-10552-3
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- Publication type:
- Article
Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 12, p. 3834, doi. 10.1111/ene.16018
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- Publication type:
- Article
Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 8, p. 2461, doi. 10.1111/ene.15860
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- Publication type:
- Article
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 1, p. 19, doi. 10.1111/jns.12362
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- Publication type:
- Article
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 4, p. 414, doi. 10.1111/j.1529-8027.2012.00441.x
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- Publication type:
- Article
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 119, doi. 10.1111/j.1529-8027.2011.00331.x
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- Publication type:
- Article