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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
- Published in:
- 2019
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- Publication type:
- journal article
Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis.
- Published in:
- 2018
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- Publication type:
- journal article
Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.
- Published in:
- 1999
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- Publication type:
- journal article
Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations.
- Published in:
- 2011
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- Publication type:
- journal article
Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.
- Published in:
- 2006
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- 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
Incidence of myeloid neoplasms in Spain (2002–2013): a population-based study of the Spanish network of cancer registries.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-03734-6
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- Publication type:
- Article
The Skeletal Muscle Emerges as a New Disease Target in Amyotrophic Lateral Sclerosis.
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- Journal of Personalized Medicine, 2021, v. 11, n. 7, p. 671, doi. 10.3390/jpm11070671
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- Publication type:
- Article
Incidence of varicella zoster virus infections of the central nervous system in the elderly: a large tertiary hospital-based series (2007-2014).
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- Journal of NeuroVirology, 2017, v. 23, n. 3, p. 451, doi. 10.1007/s13365-017-0519-y
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- Publication type:
- Article
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 257, doi. 10.1111/j.1399-0004.2012.01896.x
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- Publication type:
- Article
Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study.
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- 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
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- Publication type:
- Letter
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.
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- 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.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4548, doi. 10.3390/ijms20184548
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- Publication type:
- Article
UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor.
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- Multiple Sclerosis (13524585), 2007, v. 13, n. 4, p. 454, doi. 10.1177/1352458506070454
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- Publication type:
- Article
CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population.
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- Multiple Sclerosis (13524585), 2006, v. 12, n. 4, p. 511, doi. 10.1191/135248506ms1314sr
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- Publication type:
- Article
Mitochondrial haplogroups in Basque multiple sclerosis patients.
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- Multiple Sclerosis (13524585), 2004, v. 10, n. 5, p. 532, doi. 10.1191/1352458504ms1069oa
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- Publication type:
- Article
The long-term boomerang effect of COVID-19 on admissions for non-COVID diseases: the ECIEN-2022 study.
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- European Journal of Pediatrics, 2023, v. 182, n. 9, p. 4227, doi. 10.1007/s00431-023-05101-1
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- Publication type:
- Article
CNS involvement in myotonic dystrophy type 1: does sex play a role?
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- 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
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- 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.
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- 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
PARKINSON’S DISEASE-ASSOCIATED MUTATIONS IN LRRK2 CAUSE CENTROSOMAL DEFECTS VIA RAB8A PHOSPHORYLATION.
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- 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
P1-285: Susceptibility to Alzheimer’s disease related to ApoE, TF and HFE genes in basques
- Published in:
- 2006
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- Publication type:
- Abstract
P1-285: Susceptibility to Alzheimer’s disease related to ApoE, TF and HFE genes in basques
- Published in:
- 2006
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- Publication type:
- Abstract
Brain fog of post-COVID-19 condition and Chronic Fatigue Syndrome, same medical disorder?
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- Journal of Translational Medicine, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12967-022-03764-2
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- Publication type:
- Article
Routine primary care management of acute low back pain: adherence to clinical guidelines.
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- European Spine Journal, 2003, v. 12, n. 6, p. 589, doi. 10.1007/s00586-003-0567-2
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- Publication type:
- Article
Molecular Characterization of Putative Modulatory Factors in Two Spanish Families with A1555G Deafness.
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- Audiology & Neurotology, 2008, v. 13, n. 5, p. 320, doi. 10.1159/000124280
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- Publication type:
- Article
Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect.
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- Genes, Brain & Behavior, 2009, v. 8, n. 1, p. 53, doi. 10.1111/j.1601-183X.2008.00442.x
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- Publication type:
- Article
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.
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- 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.
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- Scientific Reports, 2016, p. 20126, doi. 10.1038/srep20126
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- Publication type:
- Article
Blood miRNA expression pattern is a possible risk marker for natalizumab-associated progressive multifocal leukoencephalopathy in multiple sclerosis patients.
- Published in:
- Multiple Sclerosis Journal, 2014, v. 20, n. 14, p. 1851, doi. 10.1177/1352458514534513
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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
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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
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
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- 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
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- 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
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- Publication type:
- Article