Results 191 to 200 of about 437,585 (266)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Sex-specific autosomal susceptibility loci in systemic sclerosis: a genome-wide association study.

Lancet Rheumatol
Rodriguez-Martin I, Kerick M, Rangel-Peláez C, Rosa-Baez C, Borrego-Yaniz G, Ortiz-Fernández L, Guillen-Del-Castillo A, Simeón-Aznar CP, Callejas JL, Distler O, Proudman SM, Nikpour M, Hunzelmann N, de Vries-Bouwstra JK, Herrick AL, Allanore Y, Alarcón-Riquelme ME, Beretta L, Assassi S, Denton CP, Mayes MD, Martin J, Acosta-Herrera M, International SSc Group, PRECISESADS Clinical Consortium, Australian Scleroderma Interest Group.   +25 more
europepmc   +1 more source

Genome-Wide Association Study of Vertical Jump Performance Among Elite Badminton Players. [PDF]

Int J Mol Sci
Sökmen FC, Kasakolu A, Bulgay C, Kikuchi N, Kazan HH, Koncagul S, Yildiz YA, Szabo A, Bragazzi NL, Ergün MA.   +9 more
europepmc   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Genotypic diversity and genome-wide association study of gelatinization and retrogradation properties of potato starch. [PDF]

Food Chem (Oxf)
Ahmad D, Zhang L, Gao Y, Deng B, Wu D, Bao J.   +5 more
europepmc   +1 more source

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

Family-based genome-wide association study for asthma among Han Chinese children. [PDF]

BMC Pediatr
Su X, Wang B, Wei X, Xue M, Wang J, Liu G, Ma X.   +6 more
europepmc   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

A pilot genome-wide association study of collagen deposition in collagenous colitis. [PDF]

Gastroenterol Rep (Oxf)
Di Lorenzo B, Zheng T, Rieder F, Colombel JF, Peter I, Kupcinskas J, Ohlsson B, Ferrer Cassado C, Zabana Y, Münch A, Jančiauskas D, Gordon IO, D'Amato M, Roda G.   +13 more
europepmc   +1 more source