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ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
- Published in:
- 2015
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- Publication type:
- journal article
VEGF Haplotypes are Associated with Increased Risk to Progressive Supranuclear Palsy and Corticobasal Syndrome.
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- Journal of Alzheimer's Disease, 2010, v. 21, n. 1, p. 87, doi. 10.3233/JAD-2010-091615
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- Publication type:
- Article
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10220-0
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- Publication type:
- Article
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10220-0
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- Publication type:
- Article
CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
- Published in:
- 2015
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- Publication type:
- journal article
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy.
- Published in:
- 2008
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- Publication type:
- journal article
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-30393-6
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- Publication type:
- Article
Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids.
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- Nucleic Acids Research, 2008, v. 36, n. 18, p. 5872, doi. 10.1093/nar/gkn592
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- Publication type:
- Article
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
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- Muscle & Nerve, 2003, v. 28, n. 1, p. 113, doi. 10.1002/mus.10391
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- Publication type:
- Article
The 129 codon polymorphism of the Prion Protein gene influences earlier cognitive performance in Down syndrome subjects.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 6, p. 688, doi. 10.1007/S00415-003-1057-5
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- Publication type:
- Article
Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 896, doi. 10.1038/sj.ejhg.5201056
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- Publication type:
- Article
Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1).
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 38, p. 11761, doi. 10.1523/JNEUROSCI.2734-09.2009
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- Publication type:
- Article
The brain is hypothermic in patients with mitochondrial diseases.
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- Journal of Cerebral Blood Flow & Metabolism, 2014, v. 34, n. 5, p. 915, doi. 10.1038/jcbfm.2014.38
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- Publication type:
- Article
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
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- JAMA Neurology, 2016, v. 73, n. 7, p. 812, doi. 10.1001/jamaneurol.2016.1114
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- Publication type:
- Article
Neural stem cells LewisX + CXCR4 + modify disease progression in an amyotrophic lateral sclerosis model.
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- Brain: A Journal of Neurology, 2007, v. 130, n. 5, p. 1289, doi. 10.1093/brain/awm043
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- Publication type:
- Article
Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis.
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- Brain: A Journal of Neurology, 2005, v. 128, n. 8, p. 1911, doi. 10.1093/brain/awh519
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- Publication type:
- Article
Wild-type bone marrow cells ameliorate the phenotype of SOD1-G93A ALS mice and contribute to CNS, heart and skeletal muscle tissues.
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- Brain: A Journal of Neurology, 2004, v. 127, n. 11, p. 2518, doi. 10.1093/brain/awh273
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- Publication type:
- Article
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1820, doi. 10.1002/acn3.51673
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- Publication type:
- Article
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.
- Published in:
- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1169689
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- Publication type:
- Article
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
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- Acta Myologica, 2020, v. 39, n. 2, p. 67, doi. 10.36185-2532-1900-009
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- Publication type:
- Article
Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice.
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- Annals of Neurology, 2007, v. 62, n. 1, p. 81, doi. 10.1002/ana.21152
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- Publication type:
- Article
Reply.
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- Annals of Neurology, 2005, v. 58, n. 3, p. 488
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- Publication type:
- Article
Vascular endothelial growth factor gene variability is associated with increased risk for AD.
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- Annals of Neurology, 2005, v. 57, n. 3, p. 373
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- Publication type:
- Article
Multipotentiality, homing properties, and pyramidal neurogenesis of CNS-derived LeX(ssea-1)<sup>+</sup>/CXCR4<sup>+</sup> stem cells.
- Published in:
- FASEB Journal, 2005, v. 19, n. 13, p. 1860, doi. 10.1096/fj.05-4170fje
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- Publication type:
- Article
Skeletal muscle gene expression profiling in mitochondrial disorders.
- Published in:
- FASEB Journal, 2005, v. 19, n. 7, p. 866, doi. 10.1096/fj.04-3045fje
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- Publication type:
- Article
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
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- Journal of Neurology, 2011, v. 258, n. 9, p. 1610, doi. 10.1007/s00415-011-5979-z
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- Publication type:
- Article
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.
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- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4266, doi. 10.1093/hmg/ddw258
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- Publication type:
- Article
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 8, p. 2220
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- Publication type:
- Article
Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation.
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- Case Reports in Neurology, 2011, v. 3, n. 1, p. 62, doi. 10.1159/000324925
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- Publication type:
- Article
A Neurotoxic Prion Protein Fragment Induces Rat Astroglial Proliferation and Hypertrophy.
- Published in:
- European Journal of Neuroscience, 1994, v. 6, n. 9, p. 1415, doi. 10.1111/j.1460-9568.1994.tb01003.x
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- Publication type:
- Article
Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy.
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- Journal of Child Neurology, 2011, v. 26, n. 7, p. 876, doi. 10.1177/0883073810390038
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- Publication type:
- Article
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
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- Human Mutation, 2008, v. 29, n. 2, p. 258, doi. 10.1002/humu.20642
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- Publication type:
- Article
VEGF gene variability and type 1 diabetes: evidence for a protective role.
- Published in:
- Immunogenetics, 2006, v. 58, n. 2/3, p. 107, doi. 10.1007/s00251-006-0089-2
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- Publication type:
- Article
Transplanted ALDH<sup>hi</sup>SSC<sup>lo</sup> neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 167, doi. 10.1093/hmg/ddi446
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- Publication type:
- Article
Down's syndrome fibroblasts anticipate the accumulation of specific ageing-related mtDNA mutations.
- Published in:
- 2001
- By:
- Publication type:
- Letter
Extracellular Calcium Deprivation in Astrocytes: Regulation of mRNA Expression and Apoptosis.
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- Journal of Neurochemistry, 1998, v. 70, n. 4, p. 1474, doi. 10.1046/j.1471-4159.1998.70041474.x
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- Publication type:
- Article
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions(Communicated by Christine van Broeckhoven)Online Citation: Human Mutation, Mutation in Brief #674 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/674.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 6, p. 498, doi. 10.1002/humu.9203
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- Publication type:
- Article
A collection of 33 novel human mtDNA homoplasmic variants.
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- Human Mutation, 2002, v. 20, n. 5, p. 409, doi. 10.1002/humu.9079
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- Publication type:
- Article
Syncope and autonomic failure in a middle-aged man.
- Published in:
- 2019
- By:
- Publication type:
- journal article
In vivo biolistic technique in control and mdx dystrophic mice.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 37, doi. 10.1186/1471-2350-12-37
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- Publication type:
- Article