Results 91 to 100 of about 104,787 (267)

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, EarlyView.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Psychological and behavioral correlates of health anxiety and other anxiety phenomena in adolescence—A cross‐sectional study in the Copenhagen Child Cohort 2000

JCPP Advances, EarlyView.
Abstract Background Health anxiety (HA) is characterized by impairing worry about being or becoming seriously ill. This cross‐sectional study aimed to explore psychological and behavioral correlates of HA compared to other anxiety phenomena in adolescents, that is, with respect to depression, physical symptoms, bodily dissatisfaction, health‐related ...
Charlotte Steen Duholm, Davíð R. M. A. Højgaard, Kaare Bro Wellnitz, Eva Ørnbøl, Per Hove Thomsen, Martin Køster Rimvall, Charlotte Ulrikka Rask   +6 more
wiley   +1 more source

Patient engagement in clinical trial design for rare neuromuscular disorders: impact on the DELIVER and ACHIEVE clinical trials

Research Involvement and Engagement
Background Engaging individuals living with disease in drug development and regulatory processes leads to more thoughtful and sensitive trial designs, drives more informative and meaningful outcomes from clinical studies, and builds trust between the ...
Patricia Furlong, Ashish Dugar, Molly White   +2 more
doaj   +1 more source

Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies

, 2022
Céline Bruge, Marine Geoffroy, Manon Benabidès, Emilie Pellier, Jamila Dhiab, Evelyne Gicquel, Lucile Hoch, Isabelle Richard, Xavier Nissan   +8 more
openalex   +2 more sources

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na‐MRI in Dysferlinopathy and Healthy Controls

Journal of Cachexia, Sarcopenia and Muscle
Background Dysferlin plays a key role in cell membrane repair; its absence or malfunction in patients with dysferlin‐deficient limb girdle muscular dystrophy leads to muscle fibre death.
Mary A. Neal, Carla F. Bolano‐Diaz, Mark Richardson, Jassi Michell‐Sodhi, Robert Muni‐Lofra, Meredith K. James, Kieren G. Hollingsworth, Heather Hilsden, Ian Wilson, Andrew M. Blamire, Volker Straub, Peter E. Thelwall, Jordi Diaz‐Manera   +12 more
doaj   +1 more source

A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene [PDF]

, 2016
Jing Miao, Jiachun Feng, Dan Zhu, Xuefan Yu   +3 more
openalex   +1 more source

Human Cyclophilins—An Emerging Class of Drug Targets

Medicinal Research Reviews, EarlyView.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova, Hana Navratilova, Kamil Musilek, Ondrej Benek   +3 more
wiley   +1 more source

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus–Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley   +1 more source

Generation and characterization of an induced pluripotent stem cell line (ZSYYDNi001-A) from a patient with Duchenne muscular dystrophy carrying exon 51 deletion in the DMD gene

, 2021
Liang Wang, Huan Li, Yaqin Li, Min Xu, Jinfu Lin, Ziyu Liao, Zhong Pei, Cheng Zhang   +7 more
openalex   +1 more source