Results 251 to 260 of about 1,506,824 (383)

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

, 1997
Magitha M. Maheshwar, Jeremy P. Cheadle, Adriane C. Jones, J Myring, Alan Fryer, Peter C. Harris, Julian R. Sampson   +6 more
openalex   +1 more source

Fragile X syndrome due to a missense mutation

European Journal of Human Genetics, 2014
L. K. Myrick, Mika Nakamoto-Kinoshita, N. Lindor, S. Kirmani, Xiaodong Cheng, S. Warren   +5 more
semanticscholar   +1 more source

Efficacy and tolerability of perampanel as add‐on therapy in Dravet syndrome: A prospective real‐world study

Epilepsia Open, EarlyView.
Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with Dravet syndrome from the neurology clinic of Shenzhen Children's Hospital from September 2020 to October 2021.
Han Wang, Hong Chen, Xin Ding, Xueyan Cao, Jiahui Mai, Huafang Zou, Dongfang Zou, Yanwei Zhu, Jianxiang Liao, Dezhi Cao   +9 more
wiley   +1 more source

Missense mutation (Ser654Leu) in the ITGA8 gene associated with renal hypodysplasia: A case report. [PDF]

Biomed Rep
Singh KG, Moorthy A.
europepmc   +1 more source

The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance

Glia, EarlyView.
Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons during rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic lipids and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production of ...
Rose Follis, Vishwanath V. Prabhu, Bruce D. Carter   +2 more
wiley   +1 more source

Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation. [PDF]

Cureus
Faraz S, Nikhat F, Hayel Suleiman Beshtawi H, Malik SA, Yahya Hashim K.   +4 more
europepmc   +1 more source

A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy

, 1999
Shamima Rahman, Jan‐Willem Taanman, Jonathan M. Cooper, Isabelle Nelson, I. Hargreaves, Brigitte Meunier, Michael G. Hanna, Joaquín J. García, Roderick Capaldi, Brian Lake, James V. Leonard, Anthony H.V. Schapira   +11 more
openalex   +1 more source

Development of functional assays for BRCA1 missense mutations [PDF]

Breast Cancer Research, 2008
Sturdy, A, Finch, D, Naseem, R, Trump, D, Evens, G, Webb, M   +5 more
openaire   +3 more sources

Macrophage Targeting Protects Nerve Structure and Improves Muscle Innervation in a Mouse Model of Charcot‐Marie‐Tooth 2J

Glia, EarlyView.
Hemizygous P0T124M mice develop a late‐onset axonopathy at 18 months of age. Pharmacological macrophage targeting with PLX5622 prevents distal axon degeneration in P0T124M mutant mice and mitigates motor impairment. ABSTRACT In several previous studies, we have shown that macrophage targeting with the CSF‐1 receptor specific kinase (c‐FMS) inhibitor ...
Dennis Klein, Neslim Ercan, Xidi Yuan, Ghjuvan' Ghjacumu Shackleford, Anke Claessens, M. Laura Feltri, Lawrence Wrabetz, Maurizio D'Antonio, Rudolf Martini   +8 more
wiley   +1 more source

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source