Gerald Pfeffer
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Explore the profile of Gerald Pfeffer including associated specialties, affiliations and a list of published articles.
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76
Citations
1224
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Recent Articles
1.
Baron K, Oviedo S, Krasny S, Zaman M, Aldakhlallah R, Bora P, et al.
Elife
. 2025 Feb;
13.
PMID: 39937095
Excessive mitochondrial fragmentation is associated with the pathologic mitochondrial dysfunction implicated in the pathogenesis of etiologically diverse diseases, including many neurodegenerative disorders. The integrated stress response (ISR) - comprising the...
2.
Mascarenhas R, Merrikh D, Khanbabaei M, Kaur N, Ghaderi N, Maroilley T, et al.
Epilepsia
. 2025 Jan;
PMID: 39751777
Objective: Somatic variants causing epilepsy are challenging to detect, as they are only present in a subset of brain cells (e.g., mosaic), resulting in low variant allele frequencies. Traditional methods...
3.
Sharkey R, Cortese F, Goodyear B, Korngut L, Jacob S, Sharkey K, et al.
Brain
. 2024 Sep;
147(12):4026-4032.
PMID: 39241118
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of motor neurons in the brain and spinal cord. Accumulation of misfolded proteins is central to the pathogenesis of ALS and the...
4.
Jacob S, Lee S, Kim S, Sharkey K, Pfeffer G, Nguyen M
Nat Rev Neurol
. 2024 Jul;
20(8):475-494.
PMID: 38965379
Amyotrophic lateral sclerosis (ALS) is the most common form of human motor neuron disease. It is characterized by the progressive degeneration of upper and lower motor neurons, leading to generalized...
5.
Baron K, Oviedo S, Krasny S, Zaman M, Aldakhlallah R, Bora P, et al.
bioRxiv
. 2024 Jun;
PMID: 38915623
Excessive mitochondrial fragmentation is associated with the pathologic mitochondrial dysfunction implicated in the pathogenesis of etiologically-diverse diseases, including many neurodegenerative disorders. The integrated stress response (ISR) - comprising the four...
6.
Pontifex C, Zaman M, D Fanganiello R, Shutt T, Pfeffer G
Int J Mol Sci
. 2024 Jun;
25(11).
PMID: 38891822
In this review we examine the functionally diverse ATPase associated with various cellular activities (AAA-ATPase), valosin-containing protein (VCP/p97), its molecular functions, the mutational landscape of VCP and the phenotypic manifestation...
7.
Klein K, Mascarenhas R, Merrikh D, Khanbabaei M, Maroilley T, Kaur N, et al.
Epilepsia
. 2024 Apr;
65(6):1768-1776.
PMID: 38587282
Objective: Recent studies have identified brain somatic variants as a cause of focal epilepsy. These studies relied on resected tissue from epilepsy surgery, which is not available in most patients....
8.
Lamont R, King M, King A, Schellenberg K, Pfeffer G
Brain
. 2024 Feb;
147(5):e43-e44.
PMID: 38366260
No abstract available.
9.
Sharma G, Zaman M, Sabouny R, Joel M, Martens K, Martino D, et al.
F1000Res
. 2024 Jan;
10:606.
PMID: 38274408
Pathogenic variants in cause Charcot-Marie-Tooth disease (CMT) type 2A (CMT2A) and are the leading cause of the axonal subtypes of CMT. CMT2A is characterized by predominantly distal motor weakness and...
10.
Armengol V, Darras B, Abulaban A, Alshehri A, Barisic N, Ben-Omran T, et al.
Neurol Clin Pract
. 2023 Dec;
14(1):e200224.
PMID: 38107546
Background And Objectives: Spinal muscular atrophy (SMA) is a neurodegenerative disorder manifesting with progressive muscle weakness and atrophy. SMA type 1 used to be fatal within the first 2 years...