Results 231 to 240 of about 120,158 (339)

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley   +1 more source

The complexity of dementia development and its comorbidities: The collaborative cross‐mouse population for multivarious tasks approach

Animal Models and Experimental Medicine, EarlyView.
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud, Iqbal M. Lone, Kareem Midlej, Fuad A. Iraqi   +3 more
wiley   +1 more source

Autoimmune thyroid disease in inborn errors of immunity: a retrospective perspective. [PDF]

Orphanet J Rare Dis
Bayrak Durmaz MS, Ozdel Ozturk B, Gorgulu Akin B, Kalkan F, Soyyiğit S.   +4 more
europepmc   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Díaz-López EJ, Fernández-Pombo A, Hermida-Ameijeiras Á, Gómez-Vázquez E, Rodríguez-Carnero G, Jiménez-López N, Villar-Taibo R, Cantón-Blanco A, Muñoz-Leira V, Sánchez-Pintos P, Couce ML, Olmos MAM.   +11 more
europepmc   +1 more source

Behavior Decoding Delineates Seizure Microfeatures and Associated Sudden Death Risks in Mouse Models of Epilepsy

Annals of Neurology, EarlyView.
Objective Behavior and motor manifestations are distinctive yet often overlooked features of epileptic seizures. Seizures can result in transient disruptions in motor control, often organized into specific behavioral sequences that can inform seizure types, onset zones, and outcomes.
Yuyan Shen, Jaden Thomas, Xianhui Chen, Jaden Zelidon, Mariam Najeeb, Abigayle Hahn, Ping Zhang, Aaron Sathyanesan, Bin Gu   +8 more
wiley   +1 more source

Liver transplantation in black recipients: Pittsburgh [PDF]

, 1989
Scantlebury, V, Starzl, TE, Staschak, A, Teperman, L, Todo, S, Tzakis, A   +5 more
core  

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease. [PDF]

JIMD Rep
Manoy S, Murray C, Lynch M, Minto T, Choo K, Bursle C, Lipke M, McGill J, Inwood A, Coman D.   +9 more
europepmc   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens [PDF]

Maria Faßhauer, Sarah S. Dinges, Olga Staudacher, Mirjam Völler, Anna Stittrich, Horst von Bernuth, V. Wahn, Renate Krüger   +7 more
openalex   +1 more source