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Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 281, doi. 10.1111/j.1399-0004.1995.tb04109.x
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- Publication type:
- Article
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 36, doi. 10.1186/1750-1172-7-36
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- Publication type:
- Article
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3470, doi. 10.1093/brain/awac453
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- Publication type:
- Article
Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. e31, doi. 10.1093/brain/awad041
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- Publication type:
- Article
High intra-familiar clinical variability in MORC2 mutated CMT2 patients.
- Published in:
- 2017
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- Publication type:
- Letter
Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires: Actions de la sous-commission Génétique Moléculaire de Filnemus.
- Published in:
- Médecine Sciences, 2018, v. 34, p. 20, doi. 10.1051/medsci/201834s206
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- Publication type:
- Article
Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082879
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- Publication type:
- Article
Induction of Multi-Functional T Cells in a Phase I Clinical Trial of Dendritic Cell Immunotherapy in Hepatitis C Virus Infected Individuals.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0039368
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- Publication type:
- Article
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
- Published in:
- 2018
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- Publication type:
- journal article
A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.
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- Muscle & Nerve, 2008, v. 38, n. 2, p. 1055, doi. 10.1002/mus.21050
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- Publication type:
- Article
Inflammatory demyelination in a patient with CMT1A.
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- Muscle & Nerve, 2003, v. 28, n. 3, p. 373, doi. 10.1002/mus.10404
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- Publication type:
- Article
Asymmetrical polyneuropathy with a stepwise progressive course and well-demarcated areas of demyelination.
- Published in:
- 1999
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- Publication type:
- journal article
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
- Published in:
- Human Genetics, 2005, v. 117, n. 6, p. 565, doi. 10.1007/s00439-005-1341-9
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- Publication type:
- Article
C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia.
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- Dementia & Geriatric Cognitive Disorders, 2018, v. 46, n. 3/4, p. 180, doi. 10.1159/000492963
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- Publication type:
- Article
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0457-1
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- Publication type:
- Article
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02804-4
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- Publication type:
- Article
Charcot-Marie-Tooth Disease Type 2A From Typical to Rare Phenotypic and Genotypic Features.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 8, p. 1036, doi. 10.1001/jamaneurol.2014.629
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- Publication type:
- Article
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 5, p. 379, doi. 10.1111/cge.14198
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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
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- Publication type:
- journal article
Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis?
- Published in:
- Journal of Neurology, 2023, v. 270, n. 1, p. 460, doi. 10.1007/s00415-022-11382-7
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- Publication type:
- Article
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.
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- Journal of Neurology, 2014, v. 261, n. 1, p. 174, doi. 10.1007/s00415-013-7159-9
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- Publication type:
- Article
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 457, doi. 10.1007/s10545-017-0126-3
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- Publication type:
- Article
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2279, doi. 10.1093/hmg/ddt618
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- Publication type:
- Article
Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.
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- European Journal of Neurology, 2023, v. 30, n. 10, p. 3265, doi. 10.1111/ene.15937
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- Publication type:
- Article
Charcot–Marie–Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
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- European Journal of Neurology, 2021, v. 28, n. 9, p. 2846, doi. 10.1111/ene.14950
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- Publication type:
- Article
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1898, doi. 10.1002/humu.24445
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- Publication type:
- Article
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
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- Human Mutation, 2017, v. 38, n. 5, p. 556, doi. 10.1002/humu.23189
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- Publication type:
- Article
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 318, doi. 10.3390/genes13020318
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- Publication type:
- Article
The Hexokinase 1 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4364, doi. 10.3390/ijms25084364
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- Publication type:
- Article
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
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- Neurogenetics, 2020, v. 21, n. 1, p. 29, doi. 10.1007/s10048-019-00596-z
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- Publication type:
- Article
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
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- Neurogenetics, 2018, v. 19, n. 2, p. 67, doi. 10.1007/s10048-018-0539-7
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- Publication type:
- Article
U1 snRNA mis-binding: a new cause of CMT1B.
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- Neurogenetics, 2010, v. 11, n. 1, p. 13, doi. 10.1007/s10048-009-0199-8
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- Publication type:
- Article
Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2).
- Published in:
- Human Mutation, 2001, v. 17, n. 3, p. 237, doi. 10.1002/humu.11
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- Publication type:
- Article
Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 449, doi. 10.1002/(SICI)1098-1004(199911)14:5<449::AID-HUMU17>3.0.CO;2-H
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- Publication type:
- Article
Charcot-Marie-Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0.
- Published in:
- Human Mutation, 1996, v. 8, n. 2, p. 185, doi. 10.1002/(SICI)1098-1004(1996)8:2<185::AID-HUMU13>3.0.CO;2-Z
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- Publication type:
- Article
Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
- Published in:
- Human Mutation, 1995, v. 6, n. 1, p. 50, doi. 10.1002/humu.1380060110
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- Publication type:
- Article
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 275, doi. 10.1111/jns.12635
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- Publication type:
- Article
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 1, p. 139, doi. 10.1111/jns.12310
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- Publication type:
- Article
A cryptic splicing mutation in the INF2 gene causing Charcot‐Marie‐Tooth disease with minimal glomerular dysfunction.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 1, p. 120, doi. 10.1111/jns.12308
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- Publication type:
- Article
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 4, p. 365, doi. 10.1111/jns.12192
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- Publication type:
- Article
Ultrastructural mitochondrial modifications characteristic of mitofusin 2 mutations (CMT2A).
- Published in:
- 2009
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- Publication type:
- Letter
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
- Published in:
- Journal of the Peripheral Nervous System, 2006, v. 11, n. 2, p. 148, doi. 10.1111/j.1085-9489.2006.00080.x
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- Publication type:
- Article
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients.
- Published in:
- Journal of the Peripheral Nervous System, 2005, v. 10, n. 1, p. 85, doi. 10.1111/j.1085-9489.2005.10112.x
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- Publication type:
- Article
Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations.
- Published in:
- Journal of the Peripheral Nervous System, 2001, v. 6, n. 2, p. 79, doi. 10.1046/j.1529-8027.2001.01011.x
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- Publication type:
- Article
Chronic inflammatory demyelinating polyneuropathy caused by HIV infection in a patient with asymptomatic CMT 1A.
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- Journal of the Peripheral Nervous System, 2000, v. 5, n. 3, p. 158, doi. 10.1046/j.1529-8027.2000.00014.x
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- Publication type:
- Article
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 1, p. 141, doi. 10.1093/hmg/7.1.141
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- Publication type:
- Article
The major peripheral myelin protein zero gene: structure and localization in the cluster of Fcγ receptor genes on human chromosome 1q21.3 – q23.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 12, p. 2051
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- Publication type:
- Article
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
- Published in:
- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0181700
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- Publication type:
- Article