Kelly L Williams
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Explore the profile of Kelly L Williams including associated specialties, affiliations and a list of published articles.
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64
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5147
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Recent Articles
1.
Opie-Martin S, Iacoangeli A, Topp S, Abel O, Mayl K, Mehta P, et al.
Nat Commun
. 2024 Jul;
15(1):5560.
PMID: 38956107
No abstract available.
2.
Henden L, Fearnley L, Southwood D, Smith A, Rowe D, Kiernan M, et al.
Amyotroph Lateral Scler Frontotemporal Degener
. 2024 May;
25(5-6):644-647.
PMID: 38726482
In patients of Asian ancestry, a heterozygous CGG repeat expansion of >100 units in is the cause of oculopharyngodistal myopathy type 1 (OPDM1). Repeat lengths of between 61 and 100...
3.
Thumbadoo K, Dieriks B, Murray H, Swanson M, Yoo J, Mehrabi N, et al.
Brain
. 2024 May;
147(10):3547-3561.
PMID: 38703371
Pathogenic variants in the UBQLN2 gene cause X-linked dominant amyotrophic lateral sclerosis and/or frontotemporal dementia characterized by ubiquilin 2 aggregates in neurons of the motor cortex, hippocampus and spinal cord....
4.
Ragagnin A, Sundaramoorthy V, Farzana F, Gautam S, Saravanabavan S, Takalloo Z, et al.
Sci Rep
. 2023 Nov;
13(1):20467.
PMID: 37993492
Amyotrophic lateral sclerosis (ALS) is a severely debilitating neurodegenerative condition that is part of the same disease spectrum as frontotemporal dementia (FTD). Mutations in the CCNF gene, encoding cyclin F,...
5.
Grima N, Liu S, Southwood D, Henden L, Smith A, Lee A, et al.
Neuropathol Appl Neurobiol
. 2023 Oct;
49(6):e12943.
PMID: 37818590
Aim: Amyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative disease with limited therapeutic options. A key factor limiting the development of effective therapeutics is the lack of disease biomarkers. We...
6.
McCann E, Grima N, Fifita J, Fat S, Lehnert K, Henden L, et al.
J Neuromuscul Dis
. 2023 Aug;
10(6):1127-1141.
PMID: 37638449
Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with genetic and phenotypic heterogeneity. Pathogenic genetic variants remain the only validated cause of disease, the majority of which were...
7.
Davidson J, Wu S, Rayner S, Cheng F, Duncan K, Russo C, et al.
Mol Neurobiol
. 2023 May;
60(9):5034-5054.
PMID: 37243816
Amyotrophic lateral sclerosis (ALS)- and frontotemporal dementia (FTD)-linked mutations in CCNF have been shown to cause dysregulation to protein homeostasis. CCNF encodes for cyclin F, which is part of the...
8.
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
Henden L, Fearnley L, Grima N, McCann E, Dobson-Stone C, Fitzpatrick L, et al.
Sci Adv
. 2023 May;
9(18):eade2044.
PMID: 37146135
Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), we used ExpansionHunter,...
9.
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Opie-Martin S, Iacoangeli A, Topp S, Abel O, Mayl K, Mehta P, et al.
Nat Commun
. 2022 Nov;
13(1):6901.
PMID: 36371497
Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes. In this international,...
10.
Henden L, Grosz B, Ellis M, Nicholson G, Kennerson M, Williams K
J Hum Genet
. 2022 Sep;
68(1):47-49.
PMID: 36100665
A large 78 kb insertion from chromosome 8q24.3 into Xq27.1 was identified as the cause of CMTX3 in three families of European descent from Australia (CMT193, CMT180) and New Zealand/United...