Results 161 to 170 of about 157,656 (310)

An Assessment of Paediatricians' Knowledge and Perspectives of Duchenne Muscular Dystrophy in Oman. [PDF]

Sultan Qaboos Univ Med J
Al Jabri Z, Alsawaie M, Saki Malehi A, Al Futaisi A, Al-Amrani F.   +4 more
europepmc   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis

Genetics in Medicine Open
Yinghong Pan, Fen Guo, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Ruby Liu, Kayla Quirin, Ann Martin, Madhuri Hegde   +7 more
doaj   +1 more source

Genetic, Clinical, and Management Characteristics of Duchenne Muscular Dystrophy in Saudi Arabia. [PDF]

Healthcare (Basel)
AlSaman AS, Ghamdi FA, Bamaga AK, AlShaikh N, Al Muqbil M, Muthaffar O, Bashiri FA, Ali B, Qashqari H, Heider E, Itani A, Alshahrani AA, Al Muhaizea MA.   +12 more
europepmc   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source

Collagen Type VI Alpha 1 as a Regulator of Redox Homeostasis in Antioxidant‐Enhanced Osteogenesis of Dental Stem Cells

Cell Proliferation, EarlyView.
Under physiological conditions, NAC activates the PI3K‐AKT‐COL6A1 axis to sustain redox balance and enhance osteogenesis. COL6A1 deficiency, however, compromises this axis, inducing oxidative stress and impairing NAC's osteogenic efficacy. ABSTRACT Alveolar bone injury represents a prevalent clinical challenge in dentistry, for which stem cell‐based ...
Zhaosong Meng, Jiacheng Liu, Yue Zhang, Ruimeng Yang, Jingyi Zhang, Haosun Yang, Zheng Wang, Ran Wei, Zhe Li, Shuling Guo, Lizhi Hu, Lei Sui   +11 more
wiley   +1 more source

Unmet Needs in the Care of Patients with Duchenne Muscular Dystrophy in Brazil. [PDF]

Arq Neuropsiquiatr
Araujo APQC, Barbosa AVS, Becker MM, Braga AA, Costa MCM, Fonseca ATQSM, França Junior MC, Giannetti JG, Linden VV, Magliano CADS, Pessoa ALS, Zanoteli E.   +11 more
europepmc   +1 more source

Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener

Developmental Medicine &Child Neurology, EarlyView.
The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda, Pien M. M. Weerkamp, Anna Kolesnik, Chloe Geagan, Daniela Chieffo, Mariana Suárez‐Bagnasco, David Skuse, Elizabeth Vroom, Erik H. Niks, John Vissing, Isabelle Desguerre, Volker Straub, Francesco Muntoni, Eugenio Mercuri, Jos G. M. Hendriksen, on behalf of BIND Consortium, Nathalie Angeard, Dimitrios Athanasiou, Suzie‐Ann Bakker, Nathalie Boddaert, Ellie Drummond, Chloe Durrlemann, Fernanda Fortunato, Luis Miguel García‐Moreno, Mattia Gervasi, Rosanne Govaart, Irina Guliaeva, Catherine Hankinson, Leslie Hemar, Rebecca Hendel, Hermien Kan, Leevi Kerkela, Gregory Landon, Monika Malinova, William Mandy, Federica Moriconi, Monia Pellizzari, Sarah Poncet, Elvina Sakellariou, Sergiu Siminiuc, Anna Würgler Slipsager, Lily Smythe, Pietro Spitali, Mads Peter Godtfeldt Stemmerik, Asmus Vogel, Jeanne Wolstencroft, Camilla Zanetti   +46 more
wiley   +1 more source

Interventions for children with developmental coordination disorder: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
This scoping review identified 13 differing categories of interventions delivered to children with developmental coordination disorder worldwide ranging from task oriented, motor skills training, and sensorimotor approaches to sports training approaches and health promotion, with motor performance mostly reported as outcome and similar effectiveness ...
Dorothee Jelsma, Zdenek Svoboda, Reza Abdollahipour, Miriam Palomo Nieto, Miguel Villa De Gregorio, Kamila Banatova, Farhad Ghadiri, Fatemeh Alaei, Paola Violasdotter Nilsson, Dido Green   +9 more
wiley   +1 more source

Involvement in daily life activities from the perspectives of children and young people with childhood‐onset disabilities: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
This scoping review aimed to understand the construct ‘involvement’ in daily life activities from the perspective of children and young people with childhood‐onset disabilities. We identified six conceptual ideas, including a continuum of inner dedication or investment in‐the‐moment, and five others reflecting how children and young people process ...
Vera C Kaelin, Kinga Quaaden, Helena Lindgren, Mats Granlund, Christine Imms   +4 more
wiley   +1 more source