Found: 9
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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
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- 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
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- Article
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
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- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1002, doi. 10.1038/ejhg.2013.258
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- Article
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
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- Clinical Genetics, 2022, v. 102, n. 5, p. 379, doi. 10.1111/cge.14198
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- Article
A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family.
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- Annals of Human Genetics, 2013, v. 77, n. 4, p. 336, doi. 10.1111/ahg.12017
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- 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
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- 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
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- Article
A New Lamin A Mutation Associated with Acrogeria Syndrome.
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- Journal of Investigative Dermatology, 2014, v. 134, n. 8, p. 2274, doi. 10.1038/jid.2014.158
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- Article
Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in the DMD Gene.
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- Human Mutation, 2013, v. 34, n. 8, p. 1080, doi. 10.1002/humu.22353
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- Article