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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
- Published in:
- Expert Reviews in Molecular Medicine, 2016, v. 18, p. 1, doi. 10.1017/erm.2016.9
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- Publication type:
- Article
Dysregulation of calcium homeostasis in muscular dystrophies.
- Published in:
- Expert Reviews in Molecular Medicine, 2014, v. 16, p. N.PAG, doi. 10.1017/erm.2014.17
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- Publication type:
- Article
White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-07820-1
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- Publication type:
- Article
The Skeletal Muscle Emerges as a New Disease Target in Amyotrophic Lateral Sclerosis.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 7, p. 671, doi. 10.3390/jpm11070671
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- Publication type:
- Article
Screening of the CAPN3 gene in patients with possible LGMD2A.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study.
- Published in:
- Journal of Neuropsychology, 2020, v. 14, n. 1, p. 121, doi. 10.1111/jnp.12192
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- Publication type:
- Article
Dominant LGMD2A: alternative diagnosis or hidden digenism?
- Published in:
- 2017
- By:
- Publication type:
- Letter
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A.
- Published in:
- Nature Medicine, 1999, v. 5, n. 5, p. 503, doi. 10.1038/8385
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- Publication type:
- Article
Targeting Myotonic Dystrophy Type 1 with Metformin.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2901, doi. 10.3390/ijms23052901
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- Publication type:
- Article
Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7367, doi. 10.3390/ijms22147367
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- Publication type:
- Article
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4548, doi. 10.3390/ijms20184548
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- Publication type:
- Article
CNS involvement in myotonic dystrophy type 1: does sex play a role?
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1399898
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- Publication type:
- Article
Epitope mapping of antibodies to alpha-synuclein in LRRK2 mutation carriers, idiopathic Parkinson disease patients, and healthy controls.
- Published in:
- Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00169
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- Publication type:
- Article
Epitope mapping of antibodies to alpha-synuclein in LRRK2 mutation carriers, idiopathic Parkinson disease patients and healthy controls.
- Published in:
- Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00169
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- Publication type:
- Article
Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: a case report.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Longitudinal Neuropsychological Study of Presymptomatic C.709-1G > A Progranulin Mutation Carriers.
- Published in:
- Journal of the International Neuropsychological Society, 2019, v. 25, n. 1, p. 39, doi. 10.1017/S1355617718000735
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- Publication type:
- Article
Neuropsychological Features of Asymptomatic c.709-1G>A Progranulin Mutation Carriers.
- Published in:
- Journal of the International Neuropsychological Society, 2012, v. 18, n. 6, p. 1086, doi. 10.1017/S1355617712000823
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- Publication type:
- Article
The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy.
- Published in:
- Muscle & Nerve, 2024, v. 69, n. 4, p. 472, doi. 10.1002/mus.28045
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- Publication type:
- Article
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
- Published in:
- Nature Medicine, 2011, v. 17, n. 6, p. 720, doi. 10.1038/nm.2374
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- Publication type:
- Article
PARKINSON’S DISEASE-ASSOCIATED MUTATIONS IN LRRK2 CAUSE CENTROSOMAL DEFECTS VIA RAB8A PHOSPHORYLATION.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1501, doi. 10.1016/j.jalz.2017.07.604
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- Publication type:
- Article
Mis-splicing of Tau Exon 2 and Exon 10 in myotonic dystrophy brain would result from different mechanisms
- Published in:
- 2011
- By:
- Publication type:
- Abstract
P1-285: Susceptibility to Alzheimer’s disease related to ApoE, TF and HFE genes in basques
- Published in:
- 2006
- By:
- Publication type:
- Abstract
P1-285: Susceptibility to Alzheimer’s disease related to ApoE, TF and HFE genes in basques
- Published in:
- 2006
- By:
- Publication type:
- Abstract
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.
- Published in:
- Scientific Reports, 2017, p. 39652, doi. 10.1038/srep39652
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- Publication type:
- Article
SncRNA (microRNA &snoRNA) opposite expression pattern found in multiple sclerosis relapse and remission is sex dependent.
- Published in:
- Scientific Reports, 2016, p. 20126, doi. 10.1038/srep20126
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- Publication type:
- Article
HLA-DRB1*15:01 and multiple sclerosis: a female association?
- Published in:
- Multiple Sclerosis Journal, 2012, v. 18, n. 5, p. 569, doi. 10.1177/1352458511426813
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- Publication type:
- Article
Dysautonomia in COVID-19 Patients: A Narrative Review on Clinical Course, Diagnostic and Therapeutic Strategies.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.886609
- By:
- Publication type:
- Article
Editorial: Role of Stem Cells in Skeletal Muscle Development, Regeneration, Repair, Aging, and Disease.
- Published in:
- Frontiers in Aging Neuroscience, 2016, p. 1, doi. 10.3389/fnagi.2016.00095
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- Publication type:
- Article
Transcriptomic Profile Reveals Gender-Specific Molecular Mechanisms Driving Multiple Sclerosis Progression.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0090482
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- Publication type:
- Article
α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052312
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- Publication type:
- Article
Inactivation of CDK/pRb Pathway Normalizes Survival Pattern of Lymphoblasts Expressing the FTLD-Progranulin Mutation c.709-1G>A.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037057
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- Publication type:
- Article
Genetic and Epigenetic Modifications of Sox2 Contribute to the Invasive Phenotype of Malignant Gliomas.
- Published in:
- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0026740
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- Publication type:
- Article
Differential Micro RNA Expression in PBMC from Multiple Sclerosis Patients.
- Published in:
- PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006309
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- Publication type:
- Article
Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A.
- Published in:
- PLoS ONE, 2008, v. 3, n. 11, p. 1, doi. 10.1371/journal.pone.0003750
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- Publication type:
- Article
Progranulin deficiency induces overactivation of WNT5A expression via TNF-α/NF-κB pathway in peripheral cells from frontotemporal dementia-linked granulin mutation carriers.
- Published in:
- Journal of Psychiatry & Neuroscience, 2016, v. 41, n. 4, p. 225, doi. 10.1503/jpn.150131
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- Publication type:
- Article
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
- Published in:
- 2018
- By:
- Publication type:
- journal article
ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A.
- Published in:
- Muscle & Nerve, 2014, v. 50, p. 448, doi. 10.1002/mus.24263
- By:
- Publication type:
- Article
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 3, p. 448, doi. 10.1002/mus.24263
- By:
- Publication type:
- Article
Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 5, p. 710, doi. 10.1002/mus.22194
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- Publication type:
- Article
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
- Published in:
- BMC Neurology, 2010, v. 10, p. 89, doi. 10.1186/1471-2377-10-89
- By:
- Publication type:
- Article
The increasing importance of environmental conditions in amyotrophic lateral sclerosis.
- Published in:
- International Journal of Biometeorology, 2018, v. 62, n. 8, p. 1361, doi. 10.1007/s00484-018-1550-2
- By:
- Publication type:
- Article
Kynurenic Acid Levels are Increased in the CSF of Alzheimer's Disease Patients.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 4, p. 571, doi. 10.3390/biom10040571
- By:
- Publication type:
- Article
Acetylome in Human Fibroblasts From Parkinson's Disease Patients.
- Published in:
- Frontiers in Cellular Neuroscience, 2018, p. 1, doi. 10.3389/fncel.2018.00097
- By:
- Publication type:
- Article
Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02873-5
- By:
- Publication type:
- Article
A neural extracellular matrix-based method for in vitro hippocampal neuron culture and dopaminergic differentiation of neural stem cells.
- Published in:
- BMC Neuroscience, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2202-14-48
- By:
- Publication type:
- Article
A neural extracellular matrix-based method for in vitro hippocampal neuron culture and dopaminergic differentiation of neural stem cells.
- Published in:
- 2013
- By:
- Publication type:
- journal article
The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades.
- Published in:
- Molecular Biology & Evolution, 2015, v. 32, n. 3, p. 661, doi. 10.1093/molbev/msu327
- By:
- Publication type:
- Article