Found: 12
Select item for more details and to access through your institution.
Loss of function MPZ mutation causes milder CMT1B neuropathy.
- Published in:
- Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 177, doi. 10.1111/jns.12452
- By:
- Publication type:
- Article
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/496053
- By:
- Publication type:
- Article
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/239167
- By:
- Publication type:
- Article
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A.
- Published in:
- Annals of Neurology, 2024, v. 96, n. 1, p. 170, doi. 10.1002/ana.26934
- By:
- Publication type:
- Article
Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 3, p. 563, doi. 10.1002/ana.26518
- By:
- Publication type:
- Article
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 69, doi. 10.1002/acn3.50965
- By:
- Publication type:
- Article
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 4, p. 236, doi. 10.1002/acn3.395
- By:
- Publication type:
- Article
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 607, doi. 10.1002/acn3.51979
- By:
- Publication type:
- Article
Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score ( CMTNSv2) second version, using Rasch analysis.
- Published in:
- Journal of the Peripheral Nervous System, 2014, v. 19, n. 3, p. 192, doi. 10.1111/jns.12084
- By:
- Publication type:
- Article
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion.
- Published in:
- 2015
- By:
- Publication type:
- journal article