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The French National Registry of patients with Facioscapulohumeral muscular dystrophy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 11, p. 1503, doi. 10.1093/hmg/ddi159
- By:
- Publication type:
- Article
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2493, doi. 10.1093/hmg/ddh265
- By:
- Publication type:
- Article
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 533, doi. 10.1038/ejhg.2009.207
- By:
- Publication type:
- Article
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 229, doi. 10.1038/sj.ejhg.5200433
- By:
- Publication type:
- Article
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres.
- Published in:
- Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 1, p. 621, doi. 10.1002/jcsm.12835
- By:
- Publication type:
- Article
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 13, doi. 10.1111/cge.14533
- By:
- Publication type:
- Article
A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family.
- Published in:
- Annals of Human Genetics, 2013, v. 77, n. 4, p. 336, doi. 10.1111/ahg.12017
- By:
- Publication type:
- Article
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
- Published in:
- NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 87, doi. 10.1385/NMM:8:1-2:87
- By:
- Publication type:
- Article
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
- Published in:
- 2009
- By:
- Publication type:
- Other
Analysis of the DYSF mutational spectrum in a large cohort of patients.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E345, doi. 10.1002/humu.20910
- By:
- Publication type:
- Article
Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
- Published in:
- Human Mutation, 2005, v. 26, n. 6, p. 592, doi. 10.1002/humu.9388
- By:
- Publication type:
- Article
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 165, doi. 10.1002/humu.9355
- By:
- Publication type:
- Article
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
- By:
- Publication type:
- Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
- By:
- Publication type:
- Article
A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis.
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 448, doi. 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU15>3.0.CO;2-Q
- By:
- Publication type:
- Article
Dystrophie musculaire facio-scapulo-humérale: Vers un diagnostic moléculaire étendu à la FSHD2.
- Published in:
- Médecine Sciences, 2022, v. 38, p. 52, doi. 10.1051/medsci/2022184
- By:
- Publication type:
- Article
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1432, doi. 10.1002/humu.23304
- By:
- Publication type:
- Article
Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in the DMD Gene.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1080, doi. 10.1002/humu.22353
- By:
- Publication type:
- Article
Screening of the CAPN3 gene in patients with possible LGMD2A.
- Published in:
- 2006
- By:
- Publication type:
- Letter
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 6, p. 905
- By:
- Publication type:
- Article
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
- Published in:
- 2022
- By:
- Publication type:
- journal article