Found: 30
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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 3144, doi. 10.1093/brain/awae064
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- Publication type:
- Article
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 1, p. 111, doi. 10.1111/jns.12611
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- Publication type:
- Article
Unusual upper limb features in SORD neuropathy.
- Published in:
- 2022
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- Publication type:
- Letter to the Editor
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
- Published in:
- Journal of the Peripheral Nervous System, 2017, v. 22, n. 4, p. 460, doi. 10.1111/jns.12235
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- Publication type:
- Article
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 1, p. 52, doi. 10.1111/jns.12155
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- Publication type:
- Article
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
- Published in:
- Journal of the Peripheral Nervous System, 2015, v. 20, n. 2, p. 67, doi. 10.1111/jns.12117
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- Publication type:
- Article
Impact of low temperature polysilicon on the AMLCD market.
- Published in:
- Solid State Technology, 1998, v. 41, n. 1, p. 56
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- Publication type:
- Article
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4025, doi. 10.1093/brain/awad203
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- Publication type:
- Article
SARS1 (SerRS) Causing De Novo Dominant Charcot–Marie–Tooth Disease with Slow Conduction.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 6, p. 1187, doi. 10.1002/ana.26792
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- Publication type:
- Article
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
- Published in:
- 2019
- By:
- Publication type:
- journal article
Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity.
- Published in:
- NeuroMolecular Medicine, 2015, v. 17, n. 1, p. 47, doi. 10.1007/s12017-014-8339-1
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- Publication type:
- Article
A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 201, doi. 10.1111/j.1529-8027.2012.00400.x
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- Publication type:
- Article
A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.
- Published in:
- 2011
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- Publication type:
- Journal Article
A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 1, p. 65, doi. 10.1111/j.1529-8027.2011.00321.x
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- Publication type:
- Article
Bortezomib-induced inflammatory neuropathy.
- Published in:
- 2010
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- Publication type:
- Case Study
Clinical course, costs and predictive factors for response to treatment in carpal tunnel syndrome: the PALMS study protocol.
- Published in:
- BMC Musculoskeletal Disorders, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2474-15-35
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- Publication type:
- Article
Clinical course, costs and predictive factors for response to treatment in carpal tunnel syndrome: the PALMS study protocol.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
- Published in:
- 2015
- By:
- Publication type:
- letter
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 293, doi. 10.1093/brain/awu356
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- Publication type:
- Article
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3200, doi. 10.1093/brain/awu279
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- Publication type:
- Article
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 2, p. 411, doi. 10.1093/brain/awh712
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- Publication type:
- Article
Clinical and genetic characterization of families with triple A (Allgrove) syndrome.
- Published in:
- Brain: A Journal of Neurology, 2002, v. 125, n. 12, p. 2681, doi. 10.1093/brain/awf270
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- Publication type:
- Article
Pregnancy as trigger of central nervous system dysfunction in type 1 X‐linked Charcot–Marie–Tooth disease.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 4, p. E37, doi. 10.1002/mus.27945
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- Publication type:
- Article
Prognostic factors for response to treatment by corticosteroid injection or surgery in carpal tunnel syndrome (palms study): A prospective multicenter cohort study.
- Published in:
- 2019
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- Publication type:
- journal article
PAIN AND SMALL FIBER FUNCTION IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A.
- Published in:
- Muscle & Nerve, 2014, v. 50, p. 366, doi. 10.1002/mus.24169
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- Publication type:
- Article
Pain and small fiber function in charcot-marie-tooth disease type 1A.
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- Muscle & Nerve, 2014, v. 50, n. 3, p. 366, doi. 10.1002/mus.24169
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- Publication type:
- Article
Asymmetric sensory ganglionopathy: A case series.
- Published in:
- Muscle & Nerve, 2013, v. 48, n. 1, p. 145, doi. 10.1002/mus.23772
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- Publication type:
- Article
COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 12, p. 1556, doi. 10.1001/jamaneurol.2013.3242
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- Publication type:
- Article
Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16199
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- Publication type:
- Article
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16063
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- Publication type:
- Article