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Mushroom-cage gastrostomy tube placement in patients with amyotrophic lateral sclerosis: a 5-year experience in 104 patients in a single institution.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3547, doi. 10.1093/brain/awae140
- By:
- Publication type:
- Article
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Reply: The role of DNAJB2 in amyotrophic lateral sclerosis.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Reply: The role of DNAJB2 in amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2016, v. 139, n. 10, p. 1, doi. 10.1093/brain/aww155
- By:
- Publication type:
- Article
The role of DNAJB2 in amyotrophic lateral sclerosis.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A serum microRNA signature for amyotrophic lateral sclersosis reveals convergent RNA processing defects and identifies presymptomatic mutation carriers.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Identification of a Novel, Membrane-Associated Neuronal Kinase, Cyclin-Dependent Kinase 5/p35-Regulated Kinase.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 12, p. 4975, doi. 10.1523/JNEUROSCI.23-12-04975.2003
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- Publication type:
- Article
LATE MARITIME WOODLAND TO PROTOHISTORIC CULTURE CHANGE AND CONTINUITY AT THE DEVIL'S HEAD SITE, CALAIS, MAINE.
- Published in:
- Archaeology of Eastern North America, 2017, v. 45, p. 85
- By:
- Publication type:
- Article
Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology.
- Published in:
- Glia, 2020, v. 68, n. 5, p. 1046, doi. 10.1002/glia.23761
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- Publication type:
- Article
U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 6, p. 3208, doi. 10.1093/nar/gkv157
- By:
- Publication type:
- Article
Analysis of ALS6 in frontotemporal lobar degeneration
- Published in:
- 2009
- By:
- Publication type:
- Abstract
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
- Published in:
- Nature Genetics, 2004, v. 36, n. 3, p. 225, doi. 10.1038/ng1303
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- Publication type:
- Article
Neurofilament heavy chain side arm phosphorylation regulates axonal transport of neurofilaments.
- Published in:
- Journal of Cell Biology, 2003, v. 161, n. 3, p. 489, doi. 10.1083/jcb.200303138
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- Publication type:
- Article
Retention of hexanucleotide repeatcontaining intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0289-4
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- Publication type:
- Article
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0235-x
- By:
- Publication type:
- Article
Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0212-4
- By:
- Publication type:
- Article
Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0218-y
- By:
- Publication type:
- Article
Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091269
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- 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
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- Publication type:
- Article
Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076055
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- Publication type:
- Article
The Role of Copy Number Variation in Susceptibility to Amyotrophic Lateral Sclerosis: Genome-Wide Association Study and Comparison with Published Loci.
- Published in:
- PLoS ONE, 2009, v. 4, n. 12, p. 1, doi. 10.1371/journal.pone.0008175
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- Publication type:
- Article
Latent Cluster Analysis of ALS Phenotypes Identifies Prognostically Differing Groups.
- Published in:
- PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0007107
- By:
- Publication type:
- Article
A shortened surface electromyography recording is sufficient to facilitate home fasciculation assessment.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 5, p. 625, doi. 10.1002/mus.27701
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- Publication type:
- Article
AN EVALUATION OF FOUR MINERAL FORMULATIONS TO ATTRACT DEER TO CAMERA SURVEY SITES.
- Published in:
- 2007
- By:
- Publication type:
- Abstract
Birth order and the genetics of amyotrophic lateral sclerosis.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 1, p. 99, doi. 10.1007/s00415-007-0709-2
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- Publication type:
- Article
Cortical involvement in four cases of primary lateral sclerosis using [<sup>11</sup>C]-flumazenil PET.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 8, p. 1033, doi. 10.1007/s00415-006-0482-7
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- Publication type:
- Article
Amyotrophic lateral sclerosis in an urban setting.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 12, p. 1642, doi. 10.1007/s00415-006-0195-y
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- Publication type:
- Article
Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised α-fetoprotein.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 7, p. 805, doi. 10.1007/s00415-004-0427-y
- By:
- Publication type:
- Article
ALS/ FTD-associated FUS activates GSK-3β to disrupt the VAPB- PTPIP51 interaction and ER-mitochondria associations.
- Published in:
- EMBO Reports, 2016, v. 17, n. 9, p. 1326, doi. 10.15252/embr.201541726
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- 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
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- Publication type:
- Article
RNA Misprocessing in C9orf72-Linked Neurodegeneration.
- Published in:
- Frontiers in Cellular Neuroscience, 2017, p. 1, doi. 10.3389/fncel.2017.00195
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- Publication type:
- Article
Maturation and electrophysiological properties of human pluripotent stem cell-derived oligodendrocytes.
- Published in:
- Stem Cells, 2016, v. 34, n. 4, p. 1040, doi. 10.1002/stem.2273
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- Publication type:
- Article
TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.
- Published in:
- Neuropathology, 2009, v. 29, n. 6, p. 672, doi. 10.1111/j.1440-1789.2009.01029.x
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- Publication type:
- Article
A proposed staging system for amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 3, p. 847, doi. 10.1093/brain/awr351
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- Publication type:
- Article
The risk to relatives of patients with sporadic amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3451, doi. 10.1093/brain/awr248
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- Publication type:
- Article
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1798, doi. 10.1093/brain/awq109
- By:
- Publication type:
- Article
Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1763, doi. 10.1093/brain/awq111
- 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
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 4, p. 868, doi. 10.1093/brain/awl030
- 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
Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability.
- Published in:
- Nature Communications, 2015, v. 6, n. 1, p. 5999, doi. 10.1038/ncomms6999
- By:
- Publication type:
- Article
ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43.
- Published in:
- Nature Communications, 2014, v. 5, n. 6, p. 3996, doi. 10.1038/ncomms4996
- By:
- Publication type:
- Article
Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 1, p. 130
- By:
- Publication type:
- Article
Compound heterozygosity and variable penetrance in SOD1 amyotrophic lateral sclerosis pedigrees.
- Published in:
- 2001
- By:
- Publication type:
- Letter
Combination of neurofilament heavy chain and complement C3 as CSF biomarkers for ALS.
- Published in:
- Journal of Neurochemistry, 2011, v. 117, n. 3, p. 528, doi. 10.1111/j.1471-4159.2011.07224.x
- By:
- Publication type:
- Article
SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.
- Published in:
- Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab236
- By:
- Publication type:
- Article
ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-91453-3
- By:
- Publication type:
- Article