Results 91 to 100 of about 2,741 (208)

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +1 more source

X-linked myotubular myopathy in a family of two infant siblings: A case report and review

Pediatrics and Neonatology
X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation.
Amelia Suan-Lin Koe, Yee Yin Tan, Shrenik Vora   +2 more
doaj   +1 more source

ミオチュブラーミオパチーにおける形態学的および免疫組織化学的特徴の研究 [PDF]

, 2014
博士（医学） 甲第583号， 著者名：Minobu Shichiji・Valérie Biancalana・Michel Fardeau・Jean-Yves Hogrel・Makiko Osawa・Jocelyn Laporte・Norma Beatriz Romero，タイトル：Extensive morphological and immunohistochemical characterization in myotubular myopathy，掲載誌：Brain and behavior ...
七字 美延
core   +1 more source

Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]

Annals of Child Neurology, 2022
Hyewon Woo, Seungbok Lee, Ji Yeon Han, Woo Joong Kim, Man Jin Kim, Moon-Woo Seong, Soo Yeon Kim, Anna Cho, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae   +10 more
doaj   +1 more source

ミオチュブラーミオパチーにおける形態学的および免疫組織化学的特徴の研究 [PDF]

博士（医学） 甲第583号， 著者名：Minobu Shichiji・Valérie Biancalana・Michel Fardeau・Jean-Yves Hogrel・Makiko Osawa・Jocelyn Laporte・Norma Beatriz Romero，タイトル：Extensive morphological and immunohistochemical characterization in myotubular myopathy，掲載誌：Brain and behavior ...
七字,　美延
core  

Membrane Traffic and Muscle: Lessons from Human Disease [PDF]

, 2008
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/73369/1/j.1600-0854.2008.00716.x ...
Angelini C, Carlson BM, Coronas S, Laporte J, Pierson CR, Saito A, Selcen D, Woodman SE   +7 more
core   +1 more source

Syngeneic Myoblast Transplantation Improves Muscle Function in a Murine Model of X-Linked Myotubular Myopathy

Cell Transplantation, 2015
X-linked myotubular myopathy (XLMTM) is an isogenic muscle disease characterized by progressive wasting of skeletal muscle, weakness, and premature death of affected male offspring.
Hyun Ju Lim, Sunyoung Joo, Seh-Hoon Oh, John D. Jackson, Delrae M. Eckman, Tiffaney M. Bledsoe, Christopher R. Pierson, Martin K. Childers, Anthony Atala, James J. Yoo M.D., Ph.D.   +9 more
doaj   +1 more source

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2 [PDF]

, 2017
Mutations in myotubularin-related protein-2 (MTMR2) or MTMR13/set-binding factor-2 (SBF2) genes are responsible for the severe autosomal recessive hereditary neuropathies, Charcot-Marie-Tooth disease (CMT) types 4B1 and 4B2, both characterized by reduced
Berger, Imre, Berger, Philipp, Schaffitzel, Christiane, Suter, Ueli, Tersar, Kristian, Volkmer, Benjamin   +5 more
core  

Congenital myopathies:not only a paediatric topic [PDF]

, 2016
PURPOSE OF REVIEW: This article reviews adult presentations of the major congenital myopathies - central core disease, multiminicore disease, centronuclear myopathy and nemaline myopathy - with an emphasis on common genetic backgrounds, typical ...
Jungbluth, Heinz, Voermans, Nicol C
core   +2 more sources

Intravital microscopy: An innovative approach to track real‐time muscle integrity and pathology in Pompe disease

Clinical and Translational Discovery, Volume 4, Issue 4, August 2024.
Nishitha R. Pillai, Reena V. Kartha
wiley   +1 more source