Quasar S Padiath
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Explore the profile of Quasar S Padiath including associated specialties, affiliations and a list of published articles.
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16
Citations
780
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Recent Articles
1.
Vollmer L, Liu F, Nmezi B, Bey G, Herdman N, Shun T, et al.
Sci Rep
. 2025 Mar;
15(1):7314.
PMID: 40025114
Lamin B1 (LMNB1) is an intermediate filament protein that is an integral component of the nuclear lamina, a structure that is critical for nuclear organization and function. Mutations involving the...
2.
Nmezi B, Bey G, Oranburg T, Dudnyk K, Lardo S, Herdman N, et al.
Nat Commun
. 2025 Feb;
16(1):1373.
PMID: 39910058
The role of non-coding regulatory elements and how they might contribute to tissue type specificity of disease phenotypes is poorly understood. Autosomal Dominant Leukodystrophy (ADLD) is a fatal, adult-onset, neurological...
3.
Nmezi B, Bey G, Oranburg T, Dudnyk K, Lardo S, Herdman N, et al.
bioRxiv
. 2023 Aug;
PMID: 37609196
The role of non-coding regulatory elements and how they might contribute to tissue type specificity of disease phenotypes is poorly understood. Autosomal Dominant Leukodystrophy (ADLD) is a fatal, adult-onset, neurological...
4.
Neri I, Ramazzotti G, Mongiorgi S, Rusciano I, Bugiani M, Conti L, et al.
Mol Neurobiol
. 2023 Jul;
60(11):6362-6372.
PMID: 37450245
Autosomal dominant leukodystrophy (ADLD) is an ultra-rare, slowly progressive, and fatal neurodegenerative disorder associated with the loss of white matter in the central nervous system (CNS). Several years after its...
5.
Bijarnia-Mahay S, Roy G, Padiath Q, Saxena R, Verma I
Ann Indian Acad Neurol
. 2021 Aug;
24(3):413-416.
PMID: 34447008
Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with...
6.
Liao J, Coffman K, Locker J, Padiath Q, Nmezi B, Filipink R, et al.
Mol Genet Genomic Med
. 2021 Mar;
9(4):e1647.
PMID: 33666368
Background: Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early-onset non-progressive involuntary movements. Although NKX2-1 mutations or deletions are the cause of BHC, some BHC families do...
7.
Balestrini S, Mikati M, Alvarez-Garcia-Roves R, Carboni M, Hunanyan A, Kherallah B, et al.
Neurology
. 2020 Sep;
95(21):e2866-e2879.
PMID: 32913013
Objective: To define the risks and consequences of cardiac abnormalities in -related syndromes. Methods: Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar...
8.
Nmezi B, Vollmer L, Shun T, Gough A, Rolyan H, Liu F, et al.
SLAS Discov
. 2020 May;
25(8):939-949.
PMID: 32349647
Autosomal dominant leukodystrophy (ADLD) is a fatal, progressive adult-onset disease characterized by widespread central nervous system (CNS) demyelination and significant morbidity. The late age of onset together with the relatively...
9.
Padiath Q
Front Cell Dev Biol
. 2019 Apr;
7:41.
PMID: 30949481
The nuclear lamina is a fibrous meshwork of proteins found adjacent to the inner nuclear membrane that plays a critical role in the maintenance of nuclear architecture. Made up of...
10.
Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig M, et al.
Neurol Genet
. 2019 Mar;
5(1):e305.
PMID: 30842973
Objective: Clinical, radiologic, and molecular analysis of patients with genomic deletions upstream of the gene. Methods: Detailed neurologic, MRI examinations, custom array comparative genomic hybridization (aCGH) analysis, and expression analysis...