Results 61 to 70 of about 2,741 (208)

Respiratory Muscle Strength in Healthy Children Aged 6 Years and Under: An Observational Study

Pediatric Pulmonology, Volume 60, Issue 9, September 2025.
ABSTRACT Study Question Measurement of respiratory muscle strength is important in the assessment and management of neuromuscular diseases. Reference data are essential for interpretation of clinical findings, but are lacking in infants and young children. This study aimed to provide reference data for maximum inspiratory (PImax) and maximum expiratory
Kayley Noxell, Emily Acquaye, Vicky MacBean   +2 more
wiley   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Dementia in a Child with Myotubular Myopathy [PDF]

Pediatric Neurology, 2009
An 8-year old boy with genetically confirmed X-linked myotubular myopathy developed progressively worsening dementia and subclinical seizures at age 5-6 years. Previously, seizures or dementia have been noted in only a small number of myotubular myopathy patients, and only in association with significant metabolic disturbances.
Mccrea, Heather, Kretz, Christine, Laporte, Jocelyn, Ment, Laura   +3 more
openaire   +3 more sources

Centronuclear myopathy in a Labrador Retriever presenting for evaluation of a ‘bunny‐hopping’ gait

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract A 3‐year‐old female neutered Labrador Retriever presented with a chronic history of ‘bunny‐hopping’ gait, presumed secondary to hip dysplasia. They exhibited moderate exercise intolerance, developing a stiff, short‐strided gait and collapsing into sternal recumbency after a brief period of exercise.
Aishling Lande, Richard Lawn, Sophie Martin   +2 more
wiley   +1 more source

PI3KC2β depletion rescues endosomal trafficking defects in Mtm1 knockout skeletal muscle cells

Journal of Lipid Research
Phosphoinositides constitute a class of seven phospholipids found in cell membranes, regulating various cellular processes like trafficking and signaling.
Mélanie Mansat, Afi Oportune Kpotor, Anne Mazars, Gaëtan Chicanne, Bernard Payrastre, Julien Viaud   +5 more
doaj   +1 more source

Is Upregulation of Sarcolipin Beneficial or Detrimental to Muscle Function?

Frontiers in Physiology, 2021
Sarcolipin (SLN) is a regulator of sarco/endo plasmic reticulum Ca2+-ATPase (SERCA) pump and has been shown to be involved in muscle nonshivering thermogenesis (NST) and energy metabolism.
Naresh C. Bal, Subash C. Gupta, Subash C. Gupta, Meghna Pant, Danesh H. Sopariwala, Geoffrey Gonzalez-Escobedo, Joanne Turner, Joanne Turner, John S. Gunn, John S. Gunn, Christopher R. Pierson, Christopher R. Pierson, Christopher R. Pierson, Scott Q. Harper, Jill A. Rafael-Fortney, Muthu Periasamy, Muthu Periasamy   +16 more
doaj   +1 more source

Functional phosphatome requirement for protein homeostasis, networked mitochondria, and sarcomere structure in C. elegans muscle [PDF]

, 2017
Background: Skeletal muscle is central to locomotion and metabolic homeostasis. The laboratory worm C. elegans has been developed into a genomic model for assessing the genes and signals that regulate muscle development and protein degradation. Past work
Alessi, Anderson, Andrabi, Andres-Mateos, Ashrafi, Brouilly, Burdine, Cohen, Corsi, Davis, Drummond, Etheridge, Etheridge, Fabian, Fingar, Gaffney, Gross, Haehling, He, Herndon, Higashibata, Huang da, Kamath, Laporte, Lee, Lehmann, Lehmann, Lehmann, Lokireddy, Manning, Moerman, Mostafavi, Narayan, Petersen, Phillips, Piccirillo, Plowman, Rapundalo, Romero-Suarez, Rual, Sawyer, Schiaffino, Shaye, Shephard, Smoot, Stein, Szewczyk, Szewczyk, Szewczyk, Szewczyk, Tosch, Wang, Warde-Farley, Wissmann, Yang, Zdinak, Zhang, Zhao, Zhong, Zoncu   +59 more
core   +1 more source

The Myotubularin Related Proteins and the Untapped Interaction Potential of Their Disordered C‐Terminal Regions

Proteins: Structure, Function, and Bioinformatics, Volume 93, Issue 4, Page 831-854, April 2025.
ABSTRACT Intrinsically disordered regions (IDRs) of proteins remain understudied with enigmatic sequence features relevant to their functions. Members of the myotubularin‐related protein (MTMR) family contain uncharacterized IDRs. After decades of research on their phosphatase activity, recent work on the C‐terminal IDRs of MTMR7 revealed new ...
Daniel Saar, Caroline L. E. Lennartsson, Philip Weidner, Elke Burgermeister, Birthe B. Kragelund   +4 more
wiley   +1 more source

Myotubular/centronuclear myopathy and central core disease [PDF]

Neurology India, 2008
The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy.
Fujimura-Kiyono, Chieko, Racz, Gabor Z., Nishino, Ichizo   +2 more
openaire   +2 more sources

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age

European Journal of Neurology, Volume 32, Issue 4, April 2025.
ABSTRACT Background Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non‐progressive muscle weakness.
Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, Bruno Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin   +10 more
wiley   +1 more source