Found: 9
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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
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
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
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
Triple Knock-Out of CNTF, LIF, and CT-1 Defines Cooperative and Distinct Roles of these Neurotrophic Factors for Motoneuron Maintenance and Function.
- Published in:
- Journal of Neuroscience, 2005, v. 25, n. 7, p. 1778, doi. 10.1523/JNEUROSCI.4249-04.2005
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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
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
- Published in:
- Annals of Neurology, 2003, v. 54, n. 6, p. 719
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- Publication type:
- Article
Severe Spinal Muscular Atrophy Variant Associated With Congenital Bone Fractures.
- Published in:
- Journal of Child Neurology, 2002, v. 17, n. 9, p. 718, doi. 10.1177/088307380201700915
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- Publication type:
- Article