118 results on '"Farhan, Sali M. K."'
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2. Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS
3. Targeting Tau Mitigates Mitochondrial Fragmentation and Oxidative Stress in Amyotrophic Lateral Sclerosis
4. Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype
5. Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis Genes
6. Identification of gene fusions associated with amyotrophic lateral sclerosis.
7. KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
8. Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes
9. Rare neurovascular genetic and imaging markers across neurodegenerative diseases
10. MTSviewer: A database to visualize mitochondrial targeting sequences, cleavage sites, and mutations on protein structures
11. Clinical testing panels for ALS : global distribution, consistency, and challenges
12. Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion
13. Sex-stratified RNA-seq analysis reveals traumatic brain injury-induced transcriptional changes in the female hippocampus conducive to dementia
14. Cover Image, Volume 177B, Number 1, January 2018
15. OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia
16. Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy
17. Questioning the association of the STMN2 dinucleotide repeat with ALS
18. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection
19. DnaJC7 in Amyotrophic Lateral Sclerosis
20. Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post‐mortem motor cortex and cerebrospinal fluid
21. Targeting Tau Mitigates Mitochondrial Fragmentation and Oxidative Stress in Amyotrophic Lateral Sclerosis
22. Exome Sequencing: New Insights into Lipoprotein Disorders
23. Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
24. TRIAL WATCH: Antisenses working overtime in lipids
25. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
26. Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion
27. Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post‐mortem motor cortex and cerebrospinal fluid.
28. Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
29. Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
30. Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
31. Contribution of rare variant associations to neurodegenerative disease presentation.
32. Modulation of hippocampal neuronal resilience during aging by the Hsp70/Hsp90 co‐chaperone STI1
33. Modulation of hippocampal neuronal resilience during aging by the Hsp70/Hsp90 co‐chaperone STI1.
34. Cover Image, Volume 177B, Number 1, January 2018
35. OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia
36. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
37. Antisenses working overtime in lipids
38. Exome sequencing identifiesNFS 1deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II / III deficiency
39. Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
40. The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources.
41. Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome.
42. Rare neurovascular genetic and imaging markers across neurodegenerative diseases.
43. Clinical testing panels for ALS: global distribution, consistency, and challenges.
44. Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis.
45. Lack of association of TP73 with amyotrophic lateral sclerosis in a large cohort of cases.
46. Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
47. Lipocalin-2 is increased in amyotrophic lateral sclerosis.
48. Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative.
49. Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.
50. ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion.
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