Kishore R Kumar
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Explore the profile of Kishore R Kumar including associated specialties, affiliations and a list of published articles.
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85
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1296
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Recent Articles
1.
Lycett M, Kumar K, Liang C, Ng K
Clin Neurophysiol
. 2025 Mar;
173:86-95.
PMID: 40085998
Objective: There is a need to develop novel facioscapulohumeral dystrophy (FSHD) biomarkers for use in clinical trials. We examined the muscle excitability properties in FSHD and their use as biomarkers...
2.
Rafehi H, Fearnley L, Read J, Snell P, Davies K, Scott L, et al.
Genome Res
. 2025 Feb;
PMID: 40015980
The cerebellar ataxias (CAs) are a heterogeneous group of disorders characterized by progressive incoordination. Seventeen repeat expansion (RE) loci have been identified as the primary genetic cause and account for...
3.
Cif L, Cif L, Demailly D, Demailly D, Lin J, Lin J, et al.
ArXiv
. 2025 Feb;
PMID: 39990802
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial...
4.
Cortese A, Dohrn M, Curro R, Negri S, Lassuthova P, Pisciotta C, et al.
Brain
. 2025 Feb;
PMID: 39938083
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the disease...
5.
Siow S, Fleming J, Barlow-Stewart K, Wali G, Kumar K, Sue C
Cerebellum
. 2024 Dec;
24(1):14.
PMID: 39681739
Patients with Hereditary Spastic Paraplegia (HSP) report reduced quality of life (QoL) compared to the general population. Generic QoL measures do not address disease-specific aspects such as spasticity, access to...
6.
Zochowski Y, Kumar K, Katz M, Darveniza P, Tchan M, Smyth R, et al.
Cerebellum
. 2024 Dec;
24(1):13.
PMID: 39680235
Clinically-relevant variants in the STUB1 gene have been associated with an autosomal dominant spinocerebellar ataxia 48 (SCA48), a recently described inherited neurodegenerative condition that is characterised by cognitive and psychiatric...
7.
Milne S, Roberts M, Williams S, Chua J, Grootendorst A, Agostinelli G, et al.
Ann Neurol
. 2024 Nov;
97(3):409-424.
PMID: 39520242
Objective: Rehabilitation is thought to reduce ataxia severity in individuals with hereditary cerebellar ataxia (HCA). This multicenter, randomized controlled superiority trial aimed to examine the efficacy of a 30-week goal-directed...
8.
Lycett M, Dalton S, Kumar K, Ng K
Intern Med J
. 2024 Oct;
55(1):154-157.
PMID: 39400957
Shoulder weakness with unilateral scapular winging is a common issue that initially presents to the general physician, sports physician or rheumatologist. Although most of these cases are neurogenic in nature,...
9.
Junker J, Lange L, Vollstedt E, Roopnarain K, Doquenia M, Ahmad Annuar A, et al.
Mov Disord
. 2024 Jul;
39(10):1868-1873.
PMID: 39076159
Background: Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at a global scale. Objective:...
10.
Beijer D, Dohrn M, Rebelo A, Danzi M, Grosz B, Ellis M, et al.
Brain
. 2024 Jun;
148(1):227-237.
PMID: 38938188
Charcot-Marie-Tooth (CMT) disease is a neuromuscular disorder affecting the peripheral nervous system. The diagnostic yield in demyelinating CMT (CMT1) is typically ∼80%-95%, of which at least 60% is due to...