Found: 14
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Axonal neuropathy with neuromyotonia: there is a HINT.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
- Published in:
- 2014
- By:
- Publication type:
- journal article
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1783
- By:
- Publication type:
- Article
Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Doping Platinum with Germanium: An Effective Way to Mitigate the CO Poisoning.
- Published in:
- ChemPhysChem, 2021, v. 22, n. 15, p. 1603, doi. 10.1002/cphc.202100407
- By:
- Publication type:
- Article
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. 2664, doi. 10.1093/brain/awr184
- By:
- Publication type:
- Article
HINT1 neuropathy in Norway: clinical, genetic and functional profiling.
- Published in:
- 2021
- By:
- Publication type:
- journal article
LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 8, p. 1655, doi. 10.1007/s00415-017-8474-3
- By:
- Publication type:
- Article
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 2, p. 361, doi. 10.1007/s00415-015-7985-z
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- Publication type:
- Article
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 5, p. 1289, doi. 10.1007/s00415-015-7709-4
- By:
- Publication type:
- Article
Novel Mutations in the DYNC1 H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 287, doi. 10.1002/humu.22744
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- Publication type:
- Article