Results 201 to 210 of about 3,549,870 (295)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series. [PDF]

Mol Genet Genomic Med
Yan J, Liu Z, Yi S, Liu N.
europepmc   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes. [PDF]

Nature
Zou XZ, Hu F, Lou H, Burren OS, Li X, Megy K, Wheeler E, Wu Q, Atanur SS, Karpinski M, Loesch D, Fairhurst-Hunter Z, Deevi SVV, Oerton E, Wen S, Jiang X, Salvoro C, Mitchell J, Nag A, Hollis B, O'Neill A, AstraZeneca Genomics Initiative, Harrow J, MacArthur S, Wasilewski S, O'Dell S, Tian L, Smith KR, Del Angel G, Fabre M, Dhindsa RS, Wang Q, Petrovski S, Carss K.   +33 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Assessment of Mitochondrial DNA Copy Number in Progressive Supranuclear Palsy Patients: Evidence From a Pilot Study. [PDF]

Eur J Neurol
Citrigno L, Cerantonio A, Gagliardi M, Procopio R, Felicetti A, Aureli A, Morelli M, Annesi G.   +7 more
europepmc   +1 more source

Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz, Ryan Cooper, Stefania Kaninia, Kathryn I. Challis, Will Greenway, Maria Bonello, Mahmoud Elbahnasawi, Deborah T. Shode, Dominika Gajdasik, Victor Iliev, Alison M. E. Whitelegg, Ian Galea   +11 more
wiley   +1 more source

Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing. [PDF]

BMC Med Genomics
Hu J, Pang J, Hu R, Zhou L, Yu W, Xi H, Luo Y, Yang S, Tang W, Hu A, Chen J, Peng Y.   +11 more
europepmc   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Author Correction: Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes. [PDF]

Nature
Zou XZ, Hu F, Lou H, Burren OS, Li X, Megy K, Wheeler E, Wu Q, Atanur SS, Karpinski M, Loesch D, Fairhurst-Hunter Z, Deevi SVV, Oerton E, Wen S, Jiang X, Salvoro C, Mitchell J, Nag A, Hollis B, O'Neill A, AstraZeneca Genomics Initiative, Harrow J, MacArthur S, Wasilewski S, O'Dell S, Tian L, Smith KR, Del Angel G, Fabre M, Dhindsa RS, Wang Q, Petrovski S, Carss K.   +33 more
europepmc   +1 more source