Found: 21
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ScRNAbox: empowering single-cell RNA sequencing on high performance computing systems.
- Published in:
- BMC Bioinformatics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12859-024-05935-y
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- Article
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
- Published in:
- Human Genomics, 2019, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40246-019-0203-9
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- Article
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology.
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- Science Translational Medicine, 2019, v. 11, n. 523, p. 1, doi. 10.1126/scitranslmed.aav5264
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- Article
MTSviewer: A database to visualize mitochondrial targeting sequences, cleavage sites, and mutations on protein structures.
- Published in:
- PLoS ONE, 2023, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0284541
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- Article
Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis Genes.
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- Human Mutation, 2023, p. 1, doi. 10.1155/2023/8620557
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- Article
Modulation of hippocampal neuronal resilience during aging by the Hsp70/Hsp90 co‐chaperone STI1.
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- Journal of Neurochemistry, 2020, v. 153, n. 6, p. 727, doi. 10.1111/jnc.14882
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- Article
Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post‐mortem motor cortex and cerebrospinal fluid.
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- Brain Pathology, 2022, v. 32, n. 2, p. 1, doi. 10.1111/bpa.13035
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- Article
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
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- Molecular & Cellular Biochemistry, 2021, v. 476, n. 7, p. 2633, doi. 10.1007/s11010-021-04103-7
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- Article
Identification of gene fusions associated with amyotrophic lateral sclerosis.
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- Muscle & Nerve, 2024, v. 69, n. 4, p. 477, doi. 10.1002/mus.28043
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- Article
Cover Image, Volume 177B, Number 1, January 2018.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. i, doi. 10.1002/ajmg.b.32617
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- Article
OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 75, doi. 10.1002/ajmg.b.32606
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- Article
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4608, doi. 10.1093/brain/awad224
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- Article
KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
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- Epilepsia (Series 4), 2024, v. 65, n. 3, p. 709, doi. 10.1111/epi.17880
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- Article
Contribution of rare variant associations to neurodegenerative disease presentation.
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- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00243-3
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- Article
The Ontario Neurodegenerative Disease Research Initiative (ONDRI).
- Published in:
- Canadian Journal of Neurological Sciences, 2017, v. 44, n. 2, p. 196, doi. 10.1017/cjn.2016.415
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- Article
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
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- Epilepsia (Series 4), 2014, v. 55, n. 9, p. e106, doi. 10.1111/epi.12730
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- Article
Sex-stratified RNA-seq analysis reveals traumatic brain injury-induced transcriptional changes in the female hippocampus conducive to dementia.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1026448
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- Article
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 183, doi. 10.1002/ajmg.a.38010
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- Article
Targeting Tau Mitigates Mitochondrial Fragmentation and Oxidative Stress in Amyotrophic Lateral Sclerosis.
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- Molecular Neurobiology, 2022, v. 59, n. 1, p. 683, doi. 10.1007/s12035-021-02557-w
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- Article
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
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- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4278, doi. 10.1093/hmg/ddx316
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- Article
DnaJC7 in Amyotrophic Lateral Sclerosis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4076, doi. 10.3390/ijms23084076
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- Article