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Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.
- Published in:
- Human Genetics, 2001, v. 108, n. 4, p. 356, doi. 10.1007/s004390100497
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- Article
Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients.
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- Journal of Child Neurology, 2021, v. 36, n. 12, p. 1071, doi. 10.1177/08830738211022972
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- Article
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1916
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- Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514
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- Publication type:
- Article
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.
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- Human Molecular Genetics, 2009, v. 18, n. 18, p. 3462, doi. 10.1093/hmg/ddp290
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- Article
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.
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- Human Molecular Genetics, 2006, v. 15, n. 24, p. 3544, doi. 10.1093/hmg/ddl431
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- Article
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
- Published in:
- 2018
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- Publication type:
- journal article
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 1, p. 120, doi. 10.1002/ana.24198
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- Article
State of the art of antenatal diagnosis and management of vein of Galen aneurysmal malformations.
- Published in:
- 2022
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- Publication type:
- journal article
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1165, doi. 10.1038/ejhg.2009.28
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- Publication type:
- Article
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
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- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1054, doi. 10.1038/sj.ejhg.5201885
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- Article
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.
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- Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.641
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- Publication type:
- Article
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 587, doi. 10.1111/cge.14397
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- Publication type:
- Article
YB-1 promotes microtubule assembly in vitro through interaction with tubulin and microtubules.
- Published in:
- BMC Biochemistry, 2008, v. 9, p. 1, doi. 10.1186/1471-2091-9-23
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- Article
Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035333
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- Publication type:
- Article
Amniotic Fluid Stem Cells Restore the Muscle Cell Niche in a HSA-Cre, Smn<sup>F7/F7</sup> Mouse Model.
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- Stem Cells, 2012, v. 30, n. 8, p. 1675, doi. 10.1002/stem.1134
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- Publication type:
- Article
Bone Marrow Transplantation Attenuates the Myopathic Phenotype of a Muscular Mouse Model of Spinal Muscular Atrophy.
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- Stem Cells, 2006, v. 24, n. 12, p. 2723, doi. 10.1634/stemcells.2006-0170
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- Article
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
- Published in:
- Nature Genetics, 2001, v. 27, n. 2, p. 181, doi. 10.1038/84818
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- Publication type:
- Article
An Atypical Human Induced Pluripotent Stem Cell Line With a Complex, Stable, and Balanced Genomic Rearrangement Including a Large De Novo 1q Uniparental Disomy.
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- Stem Cells Translational Medicine, 2015, v. 4, n. 3, p. 224, doi. 10.5966/sctm.2014-0186
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- Publication type:
- Article
Messenger RNA- Versus Retrovirus-Based Induced Pluripotent Stem Cell Reprogramming Strategies: Analysis of Genomic Integrity.
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- Stem Cells Translational Medicine, 2014, v. 3, n. 6, p. 686, doi. 10.5966/sctm.2013-0158
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- Publication type:
- Article
Gene targeting restricted to mouse striated muscle lineage.
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- Nucleic Acids Research, 1999, v. 27, n. 19, p. e27, doi. 10.1093/nar/27.19.e27
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- Article
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1456, doi. 10.1093/brain/awl012
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- Publication type:
- Article
Peroxisome proliferator-activated receptor δ controls muscle development and oxidative capability.
- Published in:
- FASEB Journal, 2003, v. 17, n. 15, p. 2299, doi. 10.1096/fj.03-0269fje
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- Publication type:
- Article
Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron disease.
- Published in:
- Journal of Neurology, 2002, v. 249, n. 3, p. 290, doi. 10.1007/s004150200007
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- Publication type:
- Article
Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 20, p. 3989, doi. 10.1093/hmg/ddx288
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- Publication type:
- Article
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2331, doi. 10.1002/ajmg.a.62866
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- Publication type:
- Article
Solving the puzzle of spinal muscular atrophy: What are the missing pieces?
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2836, doi. 10.1002/ajmg.a.36251
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- Article
Riluzole attenuates spinal muscular atrophy disease progression in a mouse model.
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- Muscle & Nerve, 2003, v. 28, n. 4, p. 432, doi. 10.1002/mus.10455
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- Article
Spinal muscular atrophy: Recent advances and future prospects.
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- Muscle & Nerve, 2002, v. 26, n. 1, p. 4, doi. 10.1002/mus.10110
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- Publication type:
- Article
Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene.
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- Annals of Neurology, 1997, v. 41, n. 5, p. 631, doi. 10.1002/ana.410410512
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- Article
Detection of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy.
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- Journal of Cell Biology, 2001, v. 152, n. 5, p. 1107, doi. 10.1083/jcb.152.5.1107
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- Article
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 5, p. 591, doi. 10.1001/jamaneurol.2017.5121
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- Article
Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy.
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- Human Molecular Genetics, 2003, v. 12, n. 11, p. 1233, doi. 10.1093/hmg/ddg143
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- Publication type:
- Article
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 1, p. 71, doi. 10.1093/hmg/ddg004
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- Publication type:
- Article
Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 12, p. 1439, doi. 10.1093/hmg/11.12.1439
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- Article
The role of the SMN gene in proximal spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 10, p. 1531, doi. 10.1093/hmg/7.10.1531
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- Article
The role of the SMN gene in proximal spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 10, p. 1531, doi. 10.1093/hmg/7.10.1531
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- Publication type:
- Article
Frameshift Mutation in the Survival Motor Neuron Gene in a Severe Case Of SMA Type I.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1971, doi. 10.1093/hmg/5.12.1971
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- Article
Trinucleotide repeat polymorphism at the D5S556 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1328
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- Publication type:
- Article