Results 61 to 70 of about 48,192 (208)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

PLoS Genetics, 2009
Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current ...
James J Dowling, Andrew P Vreede, Sean E Low, Elizabeth M Gibbs, John Y Kuwada, Carsten G Bonnemann, Eva L Feldman   +6 more
doaj   +1 more source

Increasing Role of Titin Mutations in Neuromuscular Disorders [PDF]

, 2016
Peer ...
Hackman, Peter, Sarparanta, Jaakko, Savarese, Marco, Udd, Bjarne, Vihola, Anna   +4 more
core   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Congenital myopathies: A clinicopathological study of 25 cases

Indian Journal of Pathology and Microbiology, 2008
Objective: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. Materials and methods: The clinical data of patients who were diagnosed with congenital myopathy between 2001 ...
Jain Deepali, Sharma Mehar, Sarkar Chitra, Gulati Shefali, Kalra Veena, Singh Sumit, Bhatia Rohit   +6 more
doaj  

Small heat-shock proteins: important players in regulating cellular proteostasis [PDF]

, 2015
Small heat-shock proteins (sHsps) are a diverse family of intra-cellular molecular chaperone proteins that play a critical role in mitigating and preventing protein aggregation under stress conditions such as elevated temperature, oxidation and infection.
Carver, John A., Ecroyd, Heath, Meehan, Sarah, Treweek, Teresa M.   +3 more
core   +1 more source

External cephalic version outcomes with tocolysis and sedation: A 10‐year retrospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To evaluate the effectiveness and safety of external cephalic version (ECV) performed with tocolysis and sedation or spinal anesthesia, and to identify predictors of ECV success, complications, and delivery outcomes after successful ECV. Methods This 10‐year cohort study included 990 pregnant women with term non‐cephalic presentation
Javier Sánchez‐Romero, Rosa María Gallego‐Pozuelo, José Eliseo Blanco‐Carnero, Javier Herrera‐Giménez, Fernando Araico‐Rodríguez, Alberto Rafael Guijarro‐Campillo, Aníbal Nieto‐Díaz, Catalina de Paco‐Matallana   +7 more
wiley   +1 more source

BMQ [PDF]

, 1963
BMQ: Boston Medical Quarterly was published from 1950-1966 by the Boston University School of Medicine and the Massachusetts Memorial ...
Antuna, Juan, Bagnoli, Thomas, Barber, Doris E., Cocchiarella, John P., Duke, Martin, Estes, J. Worth, Friedlander, Walter J., Goldsmith, Harry S., Gooding, Gretchen W., Goofman, Max L., Haseotes, Hytho V., Hass, Gerald, Hastings, A. Baird, Jackson, David R., Johnson, David S., Kechejian, Sarkis J., Kramer, Philip, Litman, George I., Madoff, Irving M., McLellan, Patricia A., O'Hara, Vincent S., Peabody, C. Newton, Pryles, Charles V., Small, Donald M., Tedeschi, Luke G., Walker, Sydney, III   +25 more
core  

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. [PDF]

, 2020
BackgroundCongenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic.
Anderson, Kendall J, Clark, Leigh Anne, Evans, Jacquelyn M, Guo, Ling T, Knipe, Marguerite, Shelton, G Diane, Sturges, Beverly K, Tsai, Kate L, Vernau, Karen M, Williams, D Colette, Winger, Kathryn, Zwueste, Danielle M   +11 more
core  

Review of nutrition management of pediatric intestinal pseudo‐obstruction

Nutrition in Clinical Practice, EarlyView.
Abstract Chronic intestinal pseudo‐obstruction (CIPO) is a rare, heterogeneous, and debilitating disorder characterized by profound intestinal dysmotility and severe nutrition challenges. Its presentation resembles that of mechanical bowel obstruction, but CIPO occurs in the absence of luminal obstruction.
Senthilkumar Sankararaman, Raisa Rani James, Bushra El‐Amaireh, Andrea Adler, Kadakkal Radhakrishnan, Sujithra Velayuthan   +5 more
wiley   +1 more source