Results 91 to 100 of about 879,135 (289)

Functional effects of mutations in the skeletal muscle ryanodine receptor type 1 (RYR1) linked to malignant hyperthermia and central core disease [PDF]

, 2006
Malignant hyperthermia (MH) is a pharmacogenetic disorder with autosomal dominant inheritance. In susceptible individuals, a MH crisis may be triggered by commonly used halogenated anaesthetics (halothane, isoflurane) or muscle relaxants ...
Ducreux, Sylvie
core   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Neonatal muscle hypotonia--an early manifestation of cerebral palsy.

Folia medica, 2001
Cerebral palsy causes a number of diagnostic, therapeutic, organisational, and social problems. A timely diagnosis reduces the unfavourable effects of the disease and the resulting disability of the children.The aim of the present study was to evaluate the role of the neonatal muscle hypotonia as an early indicative symptom of cerebral palsy (CP).Forty-
M B, Krusteva, B P, Krustev, S A, Mileva
openaire   +1 more source

Shear modulus of lower limb muscles in school-aged children with mild hypotonia

Journal of Biomechanics
The objective of this study is to compare shear modulus of lower limb muscles between children with hypotonia versus typical development (TD) or developmental disorders associated with altered tone. Nineteen children with mild hypotonia (mean age 9.4 ± 2.3y, 13 male) completed assessment of resting shear modulus of rectus femoris, biceps femoris (BF ...
Goo, Miran, Johnston, Leanne M., Tucker, Kylie   +2 more
openaire   +4 more sources

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Ranolazine-Induced Severe Bladder Hypotonia

, 2012
OBJECTIVE: To describe a case of acute urinary retention due to bladder hypotonia during ranolazine treatment. CASE SUMMARY: An 81-year-old male with multiple cardiovascular diseases was hospitalized for worsening angina and heart failure symptoms ...
M. Panfili, F. Groppa, PADRINI, ROBERTO, IAFRATE, MASSIMO, MARZOT, FILIPPO, SECCO, SILVIA, DE ROSA, GIOVANNI   +6 more
core   +1 more source

Molecular brakes regulating mTORC1 activation in skeletal muscle following synergist ablation [PDF]

, 2014
The goal of the current work was to profile positive (mTORC1 activation, autocrine/paracrine growth factors) and negative [AMPK, unfolded protein response (UPR)] pathways that might regulate overload-induced mTORC1 activation with the hypothesis that a ...
Hamilton, D. Lee, Gallagher, Iain J, Philp, A., Baar, Keith, Towler, Mhairi C., Bodine, S. C., Gallagher, Iain J., Philp, Andrew, Towler, M. C., Baar, K., Towler, Mhairi C, Mackenzie, M. G., Gallagher, I. J., Patton, Amy, Hamilton, David Lee, Patton, A., MacKenzie, Matthew G., Lee Hamilton, D., Bodine, Sue C, Bodine, Sue C., MacKenzie, Matthew G   +20 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Developmental morphology of claspers and clasper‐glands during maturation in Potamotrygon wallacei (Chondrichthyes: Potamotrygoninae)

The Anatomical Record, EarlyView.
Abstract The claspers are the copulatory organs in male elasmobranchs, responsible for directing the semen into the female cloaca (C). However, the microscopic morphology of the claspers remains poorly understood. This study describes the morphology of the claspers and clasper glands (CGs) of cururu stingray (Potamotrygon wallacei) at different ...
Matheus Samuel Cunha Braga, Grazyelle Sebrenski da Silva, Maria Inês Braga de Oliveira, Jaydione Luiz Marcon, Ruben Dario Morales Gamba   +4 more
wiley   +1 more source