Found: 24
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TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 6, p. 727, doi. 10.1111/j.1468-1331.2009.02574.x
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- Publication type:
- Article
An evolutionary history of the selectin gene cluster in humans.
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- Heredity, 2012, v. 109, n. 2, p. 117, doi. 10.1038/hdy.2012.20
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- Publication type:
- Article
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 170, doi. 10.1038/jhg.2011.122
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- Publication type:
- Article
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
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- Journal of Human Genetics, 2012, v. 57, n. 3, p. 221, doi. 10.1038/jhg.2012.3
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- Publication type:
- Article
A population genetics study of the Familial Mediterranean Fever gene: evidence of balancing selection under an overdominance regime.
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- Genes & Immunity, 2009, v. 10, n. 8, p. 678, doi. 10.1038/gene.2009.59
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- Publication type:
- Article
Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype.
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- Scientific Reports, 2016, p. 21301, doi. 10.1038/srep21301
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- Publication type:
- Article
Genetic Background Predicts Poor Prognosis in Frontotemporal Lobar Degeneration.
- Published in:
- Neurodegenerative Diseases, 2011, v. 8, n. 5, p. 289, doi. 10.1159/000322790
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- Publication type:
- Article
A Trans-Specific Polymorphism in ZC3HAV1 Is Maintained by Long-Standing Balancing Selection and May Confer Susceptibility to Multiple Sclerosis.
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- Molecular Biology & Evolution, 2012, v. 29, n. 6, p. 1599, doi. 10.1093/molbev/mss002
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- Publication type:
- Article
Growth factors in ischemic stroke.
- Published in:
- Journal of Cellular & Molecular Medicine, 2011, v. 15, n. 8, p. 1645, doi. 10.1111/j.1582-4934.2009.00987.x
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- Publication type:
- Article
Somatic stem cell research for neural repair: current evidence and emerging perspectives.
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- Journal of Cellular & Molecular Medicine, 2004, v. 8, n. 3, p. 329, doi. 10.1111/j.1582-4934.2004.tb00322.x
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- Publication type:
- Article
Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency.
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- Acta Neuropathologica, 2003, v. 105, n. 6, p. 537, doi. 10.1007/s00401-002-0654-1
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- Publication type:
- Article
Sarcoglycan deficiency in a large Italian population of myopathic patients.
- Published in:
- Acta Neuropathologica, 1998, v. 96, n. 5, p. 509, doi. 10.1007/s004010050926
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- Publication type:
- Article
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 12, p. 6555, doi. 10.1007/s00415-022-11324-3
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- Publication type:
- Article
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy.
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- European Journal of Neurology, 2020, v. 27, n. 4, p. 709, doi. 10.1111/ene.14131
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- Publication type:
- Article
Human motor neuron generation from embryonic stem cells and induced pluripotent stem cells.
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- Cellular & Molecular Life Sciences, 2010, v. 67, n. 22, p. 3837, doi. 10.1007/s00018-010-0463-y
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- Publication type:
- Article
Stem cell therapy in stroke.
- Published in:
- Cellular & Molecular Life Sciences, 2009, v. 66, n. 5, p. 757, doi. 10.1007/s00018-008-8346-1
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- Publication type:
- Article
T-antigen regulated expression reduces apoptosis of Tag-transformed human myoblasts.
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- Cellular & Molecular Life Sciences, 2001, v. 58, n. 1, p. 135, doi. 10.1007/PL00000773
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- Publication type:
- Article
Synaptotagmin 13 is neuroprotective across motor neuron diseases.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 5, p. 837, doi. 10.1007/s00401-020-02133-x
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- Publication type:
- Article
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
- Published in:
- 2001
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- Publication type:
- journal article
Down's syndrome fibroblasts anticipate the accumulation of specific ageing-related mtDNA mutations.
- Published in:
- 2001
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- Publication type:
- Letter
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
- Published in:
- 1999
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- Publication type:
- journal article
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.
- Published in:
- 1998
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- Publication type:
- journal article
In Vivo Transient and Partial Cell Reprogramming to Pluripotency as a Therapeutic Tool for Neurodegenerative Diseases.
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- Molecular Neurobiology, 2018, v. 55, n. 8, p. 6850, doi. 10.1007/s12035-018-0888-0
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- Publication type:
- Article
In vivo biolistic technique in control and mdx dystrophic mice.
- Published in:
- 1996
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- Publication type:
- journal article