Found: 24
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Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0113-9
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- Publication type:
- Article
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
- Published in:
- 2014
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- Publication type:
- Case Study
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.16078
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- Publication type:
- Article
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
- Published in:
- Nature Genetics, 2011, v. 43, n. 12, p. 1189, doi. 10.1038/ng.995
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- Publication type:
- Article
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 75, doi. 10.1038/ng703
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- Publication type:
- Article
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837
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- Publication type:
- Article
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 4, p. 1, doi. 10.1371/journal.pgen.1006746
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- Publication type:
- Article
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.
- Published in:
- Muscle & Nerve, 2007, v. 35, n. 3, p. 396, doi. 10.1002/mus.20705
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- Publication type:
- Article
First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy.
- Published in:
- Neurodegenerative Diseases, 2020, v. 20, n. 1, p. 35, doi. 10.1159/000508080
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- Publication type:
- Article
'Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)'.
- Published in:
- 2004
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- Publication type:
- Case Study
Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1).
- Published in:
- Developmental Medicine & Child Neurology, 2004, v. 46, n. 8, p. 576, doi. 10.1017/S0012162204000970
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- Publication type:
- Article
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
- Published in:
- Journal of Molecular Medicine, 2009, v. 87, n. 1, p. 31, doi. 10.1007/s00109-008-0402-7
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- Publication type:
- Article
Genomic rearrangements at theIGHMBP2gene locus in two patients with SMARD1.
- Published in:
- Human Genetics, 2004, v. 115, n. 4, p. 319, doi. 10.1007/s00439-004-1156-0
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- Publication type:
- Article
First Isolation and Structure Elucidation of GDNT‐β‐Glu – Tetraether Lipid Fragment from Archaeal Sulfolobus Strains.
- Published in:
- ChemistryOpen, 2021, v. 10, n. 9, p. 889, doi. 10.1002/open.202100154
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- Publication type:
- Article
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
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- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1570, doi. 10.1038/ejhg.2009.104
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- Publication type:
- Article
The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).
- Published in:
- Acta Neuropathologica, 2005, v. 110, n. 3, p. 289, doi. 10.1007/s00401-005-1056-y
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- Publication type:
- Article
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 972, doi. 10.1002/jimd.12341
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- Publication type:
- Article
Dextran sulphate reduces diphenylhexatriene anisotropy in human peripheral blood lymphocytes: impact on plasma membrane fluidity and HIV-cytopathogenicity.
- Published in:
- 1991
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- Publication type:
- journal article
Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1).
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 2, p. 199, doi. 10.1177/0883073807310989
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- Publication type:
- Article
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 808, doi. 10.1002/humu.20525
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- Publication type:
- Article
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2031, doi. 10.1093/hmg/ddh222
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- Publication type:
- Article
A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.
- Published in:
- Human Mutation, 1998, v. 11, p. S298, doi. 10.1002/humu.1380110193
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- Publication type:
- Article
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
- Published in:
- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 12, p. 1024, doi. 10.1002/acn3.149
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- Publication type:
- Article
A Cysteine 3340 Substitution in the Dystroglycan-Binding Domain of Dystrophin Associated with Duchenne Muscular Dystrophy, Mental Retardation and Absence of the ERG b-Wave.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 7, p. 973, doi. 10.1093/hmg/5.7.973
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- Publication type:
- Article