Found: 13
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Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 3, p. 151, doi. 10.1038/jhg.2014.112
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- Publication type:
- Article
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 980, doi. 10.1093/hmg/ddt494
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- Publication type:
- Article
Krabbe's disease presenting as a peripheral neuropathy.
- Published in:
- 1997
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- Publication type:
- journal article
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.
- Published in:
- 2008
- By:
- Publication type:
- Letter
A new polymorphism in the proteolipid protein ( PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
- Published in:
- Human Mutation, 2001, v. 17, n. 2, p. 152, doi. 10.1002/1098-1004(200102)17:2<152::AID-HUMU9>3.0.CO;2-P
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- Publication type:
- Article
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 11, p. 3165, doi. 10.1093/brain/awp221
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- Publication type:
- Article
A PLP splicing abnormality is associated with an unusual presentation of PMD.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 4, p. 477, doi. 10.1002/ana.10320
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- Publication type:
- Article
Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy.
- Published in:
- Annals of Neurology, 1996, v. 40, n. 5, p. 782, doi. 10.1002/ana.410400515
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- Publication type:
- Article
Overexpression of DM20 messenger RNA in two brothers with pelizaeus-merzbacher disease.
- Published in:
- Annals of Neurology, 1995, v. 38, n. 4, p. 610, doi. 10.1002/ana.410380409
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- Publication type:
- Article
Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan's disease: a case report.
- Published in:
- 1991
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- Publication type:
- journal article
Response to Correspondence on ‘‘5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report’’.
- Published in:
- 2011
- By:
- Publication type:
- Letter
5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 10, p. 1232, doi. 10.1177/0883073809361165
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- Publication type:
- Article
Subacute Sclerosing Panencephalitis (SSPE) Presenting as Acute Disseminated Encephalomyelitis in a Child.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 7, p. 899, doi. 10.1177/0883073808330184
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- Publication type:
- Article