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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive Dystonia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 582, doi. 10.1002/mdc3.14023
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- Publication type:
- Article
SIRT1 Polymorphisms and Serum-Induced SIRT1 Protein Expression in Aging and Frailty: The CHAMP Study.
- Published in:
- 2017
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- Publication type:
- journal article
Determinants of serum-induced SIRT1 expression in older men: the CHAMP study.
- Published in:
- 2011
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- Publication type:
- journal article
Determinants of Serum-Induced SIRT1 Expression in Older Men: The CHAMP Study.
- Published in:
- Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2011, v. 66A, n. 1, p. 3, doi. 10.1093/gerona/glq158
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- Publication type:
- Article
A missense mutation in human INSC causes peripheral neuropathy.
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- EMBO Molecular Medicine, 2024, v. 16, n. 5, p. 1091, doi. 10.1038/s44321-024-00062-w
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- Publication type:
- Article
Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 880, doi. 10.1093/brain/awac424
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- Publication type:
- Article
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
- Published in:
- 2020
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- Publication type:
- Letter
A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
- Published in:
- 2018
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- Publication type:
- Letter
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
- Published in:
- 2017
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- Publication type:
- journal article
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
- Published in:
- 2015
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- Publication type:
- journal article
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
- Published in:
- Cerebellum, 2024, v. 23, n. 5, p. 2152, doi. 10.1007/s12311-024-01703-z
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- Publication type:
- Article
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
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- Cerebellum, 2024, v. 23, n. 1, p. 268, doi. 10.1007/s12311-023-01522-8
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- Publication type:
- Article
A non-genetic, cell cycle-dependent mechanism of platinum resistance in lung adenocarcinoma.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.65234
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- Article
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1923
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- Publication type:
- Article
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 289, doi. 10.1038/ng1514
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- Publication type:
- Article
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.
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- Experimental & Molecular Medicine EMM, 2024, v. 56, n. 6, p. 1348, doi. 10.1038/s12276-024-01250-x
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- Publication type:
- Article
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
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- Muscle & Nerve, 2013, v. 47, n. 6, p. 922, doi. 10.1002/mus.23743
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- Publication type:
- Article
A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A.
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- Muscle & Nerve, 2012, v. 46, n. 3, p. 454, doi. 10.1002/mus.23346
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- Publication type:
- Article
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.
- Published in:
- Human Genetics, 2016, v. 135, n. 11, p. 1269, doi. 10.1007/s00439-016-1720-4
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- Publication type:
- Article
A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36.
- Published in:
- Human Genetics, 2007, v. 121, n. 5, p. 559, doi. 10.1007/s00439-007-0348-9
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- Publication type:
- Article
YB-1 Knockdown Inhibits the Proliferation of Mesothelioma Cells through Multiple Mechanisms.
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- Cancers, 2020, v. 12, n. 8, p. 2285, doi. 10.3390/cancers12082285
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- Publication type:
- Article
Genetic analysis of failed male puberty using whole exome sequencing.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 11, p. 1410, doi. 10.1515/jpem-2022-0254
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- Publication type:
- Article
CD300f epitopes are specific targets for acute myeloid leukemia with monocytic differentiation.
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- Molecular Oncology, 2019, v. 13, n. 10, p. 2107, doi. 10.1002/1878-0261.12549
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- Publication type:
- Article
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55875-4
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- Publication type:
- Article
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
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- Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1741, doi. 10.1093/brain/awp115
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- Publication type:
- Article
A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 13, p. 2177, doi. 10.1093/hmg/ddad054
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- Publication type:
- Article
Characterizing the molecular phenotype of an Atp7a<sup>T985I</sup> conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
- Published in:
- Metallomics, 2016, v. 8, n. 9, p. 981, doi. 10.1039/c6mt00082g
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- Publication type:
- Article
Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease.
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- Annals of Neurology, 2023, v. 93, n. 2, p. 244, doi. 10.1002/ana.26501
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- Publication type:
- Article
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
- Published in:
- 2016
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- Publication type:
- journal article
Upper and lower limb tremor in Charcot–Marie–Tooth neuropathy type 1A and the implications for standing balance.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 4, p. 1776, doi. 10.1007/s00415-023-12124-z
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- Publication type:
- Article
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
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- Journal of Neurology, 2015, v. 262, n. 9, p. 2124, doi. 10.1007/s00415-015-7727-2
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- Publication type:
- Article
Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 422, doi. 10.1002/mgg3.390
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- Publication type:
- Article
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 2, p. 143, doi. 10.1002/mgg3.126
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- Publication type:
- Article
Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.
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- Human Molecular Genetics, 2022, v. 31, n. 1, p. 133, doi. 10.1093/hmg/ddab228
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- Publication type:
- Article
Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations.
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- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1629, doi. 10.1093/hmg/ddz006
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- Publication type:
- Article
A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
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- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1404, doi. 10.1093/hmg/dds557
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- Publication type:
- Article
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1794, doi. 10.1093/hmg/ddr612
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- Publication type:
- Article
Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy.
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- European Journal of Neurology, 2023, v. 30, n. 2, p. 511, doi. 10.1111/ene.15601
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- Publication type:
- Article
Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.
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- Polish Journal of Endocrinology / Endokrynologia Polska, 2021, v. 72, n. 4, p. 366, doi. 10.5603/EP.a2021.0062
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- Publication type:
- Article
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.
- Published in:
- Frontiers in Genetics, 2023, v. 13, p. 1, doi. 10.3389/fgene.2022.972007
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- Publication type:
- Article
Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.842860
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- 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
A Recurrent Loss-of-Function Alanyl-tRNA Synthetase ( AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N).
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 512, doi. 10.1002/humu.22527
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- Publication type:
- Article
A Recurrent loss-of-function alanyl-tRNA synthetase ( AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N).
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 244, doi. 10.1002/humu.21635
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- Publication type:
- Article
Multiple protective activities of neuroglobin in cultured neuronal cells exposed to hypoxia re-oxygenation injury.
- Published in:
- Journal of Neurochemistry, 2009, v. 108, n. 5, p. 1143, doi. 10.1111/j.1471-4159.2008.05846.x
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- Publication type:
- Article
Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01385-5
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- Publication type:
- Article
Antenatal testing for Charcot‐Marie‐Tooth neuropathy.
- Published in:
- Medical Journal of Australia, 1992, v. 156, n. 8, p. 579, doi. 10.5694/j.1326-5377.1992.tb121426.x
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- Publication type:
- Article
Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.
- Published in:
- Neurogenetics, 2021, v. 22, n. 3, p. 149, doi. 10.1007/s10048-021-00650-9
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- Publication type:
- Article
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 117, doi. 10.1007/s10048-019-00576-3
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- Publication type:
- Article
Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.
- Published in:
- Neurogenetics, 2014, v. 15, n. 4, p. 229, doi. 10.1007/s10048-014-0414-0
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- Publication type:
- Article