Found: 34
Select item for more details and to access through your institution.
Alpha-synuclein repeat variants and survival in Parkinson's disease.
- Published in:
- Movement Disorders, 2014, v. 29, n. 8, p. 1053, doi. 10.1002/mds.25841
- By:
- Publication type:
- Article
Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
- Published in:
- Movement Disorders, 2012, v. 27, n. 12, p. 1522, doi. 10.1002/mds.25132
- By:
- Publication type:
- Article
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
- Published in:
- Science Translational Medicine, 2022, v. 14, n. 633, p. 1, doi. 10.1126/scitranslmed.abj0264
- By:
- Publication type:
- Article
Homozygosity analysis in amyotrophic lateral sclerosis.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1429, doi. 10.1038/ejhg.2013.59
- By:
- Publication type:
- Article
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
- Published in:
- 2017
- By:
- Publication type:
- journal article
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 411, doi. 10.1038/ng1742
- By:
- Publication type:
- Article
EVALUATION OF THE COMPLEXITY OF CHARGE RECOMBINATION KINETICS IN PHOTOSYNTHETIC BACTERIA.
- Published in:
- Photochemistry & Photobiology, 1984, v. 40, n. 4, p. 525, doi. 10.1111/j.1751-1097.1984.tb04628.x
- By:
- Publication type:
- Article
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1775, doi. 10.1002/acn3.52083
- By:
- Publication type:
- Article
The Effects of Two Polymorphisms on p21<sup>cip1</sup> Function and Their Association with Alzheimer’s Disease in a Population of European Descent.
- Published in:
- PLoS ONE, 2015, v. 10, n. 1, p. 1, doi. 10.1371/journal.pone.0114050
- By:
- Publication type:
- Article
Safety, Pharmacokinetic, and Functional Effects of the Nogo-A Monoclonal Antibody in Amyotrophic Lateral Sclerosis: A Randomized, First-In-Human Clinical Trial.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097803
- By:
- Publication type:
- Article
An Evaluation of a SVA Retrotransposon in the <i>FUS</i> Promoter as a Transcriptional Regulator and Its Association to ALS.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090833
- By:
- Publication type:
- Article
Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS).
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009872
- By:
- Publication type:
- Article
Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy.
- Published in:
- PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0007114
- By:
- Publication type:
- Article
Chronic Inflammatory Demyelinating Polyneuropathy Presenting With Headache and Papilledema.
- Published in:
- Headache: The Journal of Head & Face Pain, 1999, v. 39, n. 4, p. 299, doi. 10.1046/j.1526-4610.1999.3904299.x
- By:
- Publication type:
- Article
Promoting Health and Well-Being by Managing for Social-Ecological Resilience: the Potential of Integrating Ecohealth and Water Resources Management Approaches.
- Published in:
- Ecology & Society, 2011, v. 16, n. 1, p. 1, doi. 10.5751/ES-03803-160106
- By:
- Publication type:
- Article
C9orf72 intermediate expansions of 24–30 repeats are associated with ALS.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0724-4
- By:
- Publication type:
- Article
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 706, doi. 10.1093/brain/awm320
- By:
- Publication type:
- Article
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 721, doi. 10.1093/brain/awm331
- By:
- Publication type:
- Article
Large-scale pathways-based association study in amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 9, p. 2292
- By:
- Publication type:
- Article
Brain transplantation--still fantasy? Discussion paper.
- Published in:
- Journal of the Royal Society of Medicine, 1987, v. 80, n. 7, p. 441, doi. 10.1177/014107688708000715
- By:
- Publication type:
- Article
Whole-Genome Sequencing Informs Treatment:Personalized Medicine Takes Another Step Forward.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 12, p. 1638, doi. 10.1373/clinchem.2011.172684
- By:
- Publication type:
- Article
Increased serum ferritin levels in amyotrophic lateral sclerosis (ALS) patients.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 11, p. 1652, doi. 10.1007/s00415-008-0945-0
- By:
- Publication type:
- Article
Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 6, p. 1301, doi. 10.3390/life13061301
- By:
- Publication type:
- Article
Extracellular Vesicles in Amyotrophic Lateral Sclerosis.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 1, p. 121, doi. 10.3390/life13010121
- By:
- Publication type:
- Article
The Role of Sphingomyelin and Ceramide in Motor Neuron Diseases.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 9, p. N.PAG, doi. 10.3390/jpm12091418
- By:
- Publication type:
- Article
Risdiplam for the treatment of adults with spinal muscular atrophy: Experience of the Northern Ireland neuromuscular service.
- Published in:
- Muscle & Nerve, 2023, v. 67, n. 2, p. 157, doi. 10.1002/mus.27755
- By:
- Publication type:
- Article
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of novel insertion mutation.
- Published in:
- Annals of Neurology, 1997, v. 42, n. 5, p. 803, doi. 10.1002/ana.410420518
- By:
- Publication type:
- Article
Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous naip deletion in a sporadic case.
- Published in:
- Annals of Neurology, 1996, v. 39, n. 6, p. 796, doi. 10.1002/ana.410390616
- By:
- Publication type:
- Article
Cloning the shared components of complex DNA resources.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 11, p. 2011
- By:
- Publication type:
- Article
High resolution physical map of the region surrounding the spinal muscular atrophy gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1169
- By:
- Publication type:
- Article
A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1161
- By:
- Publication type:
- Article
EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) - revised report of an EFNS task force.
- Published in:
- European Journal of Neurology, 2012, v. 19, n. 3, p. 360, doi. 10.1111/j.1468-1331.2011.03501.x
- By:
- Publication type:
- Article
Using participatory epidemiology to assess factors contributing to common enteric pathogens in ontario: results from a workshop held at the ontario veterinary college, university of guelph, ontario.
- Published in:
- BMC Public Health, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2458-14-405
- By:
- Publication type:
- Article
Using participatory epidemiology to assess factors contributing to common enteric pathogens in Ontario: results from a workshop held at the Ontario Veterinary College, University of Guelph, Ontario.
- Published in:
- 2014
- By:
- Publication type:
- journal article