Results 241 to 250 of about 141,941 (296)

Diabetes management in maternally inherited diabetes and deafness (MIDD): A review and a proposed treatment algorithm

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder usually caused by the variant m.3243A>G in the MT‐TL1 gene. We have proposed that diabetes in MIDD arises from a combination of insulin resistance and impaired β‐cell function that is more likely to occur in the presence of high skeletal muscle heteroplasmy and ...
Ahsen Chaudhry, David M. Thompson, Jean‐Pierre Chanoine   +2 more
wiley   +1 more source

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition. [PDF]

Orphanet J Rare Dis
Ventura I, Revert-Ros F, Revert F, Prieto-Ruiz JÁ, Hernández-Andreu JM.   +4 more
europepmc   +1 more source

Recurrent c.‐11C>T change located upstream of the normal ATG initiation codon of ANKH causes self‐limited familial infantile epilepsy

Epilepsia, EarlyView.
Abstract Objective Pathogenic ANKH variants are a known cause of chondrocalcinosis (Online Mendelian Inheritance in Man [OMIM] #118600) and craniometaphyseal dysplasia (OMIM #123000). Here, we describe the phenotype and genotype of autosomal dominant infantile epilepsy caused by a c.‐11C>T change upstream of the gene's normal ATG initiation codon of ...
Josua Kegele, Hendrik Juenger, Harald Frantzmann, Dieter Gläser, Marc Sturm, Holger Lerche, Tobias B. Haack, Ingrid Bader   +7 more
wiley   +1 more source

Endocochlear potential contributes to hair cell death in TMPRSS3 hearing loss. [PDF]

J Clin Invest
Shearer AE, Chen YS, Rouse SL, Wang X, Marin Fermin J, Booth KT, Moawad J, Libiran NB, Li J, Kim HY, Hoa M, Olszewski R, Lei JY, Cabrera E, Totten DJ, Zhao B, Holt JR, Nelson RF.   +17 more
europepmc   +1 more source

WONOEP XVII appraisal: Targeting network excitability beyond the synapse ‐Neurotransmitter, ionic, and electro ‐diffusions

Epilepsia, EarlyView.
Abstract Epilepsy affects approximately 1% of the population worldwide, and although medications are effective in the majority of cases, seizures persist in approximately 30% of patients. Despite the effort to develop new antiseizure drugs, the rate of pharmacoresistance in patients has not diminished over the past 3 decades. There is thus a real unmet
Vincent Magloire, Marco de Curtis, Jeffrey Noebels, Gilles Huberfeld, Piotr Suffczynski, Vadym Gnatkovsky, Olga Tyurikova, Dominique Durand, David C. Henshall, Cian McCafferty   +9 more
wiley   +1 more source

Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in <i>GJB2</i>. [PDF]

Front Pediatr
Zhao X, Huan C, Bai Y, Lu Y, Xiong W, Kang H, Zhang C.   +6 more
europepmc   +1 more source

PAC‐FOS: A novel translational concordance framework identifies preclinical seizure models with highest predictive validity for clinical focal onset seizures

Epilepsia, EarlyView.
Abstract Objective Central to the development of novel antiseizure medications (ASMs) is testing of antiseizure activity in preclinical models. Although various well‐established models exist, their predictive validity across the spectrum of clinical epilepsies has been less clear.
Lyndsey L. Anderson, Kristopher M. Kahlig, Melissa L. Barker‐Haliski, Lillian G. Matthews, Hamish D. Toop, Brian Hannigan, Jacqueline French, H. Steve White, Marcio Souza, Steven Petrou   +9 more
wiley   +1 more source

Foscarnet Versus Ganciclovir for Severe Congenital Cytomegalovirus Infection: Short- and Long-Term Follow-Up. [PDF]

Viruses
Nigro G, Buzzi M, Catenaro M, Coclite E, Muselli M.   +4 more
europepmc   +1 more source