Results 201 to 210 of about 51,591 (290)

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 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

Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case Series. [PDF]

Oman Med J
Al Shamsi B, Ganesh A, Harikrishna B, Al Zuhaibi S, Markovic I, Mansy A, Al Thihli K, Ahmad F, Mameesh M, Al Murshedi F.   +9 more
europepmc   +1 more source

Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy. [PDF]

Cureus
Pagán-Melvin C, Izquierdo N, Alejandro KC.   +2 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

Isolated Cone Dystrophy With Secondary Macular Involvement Mimicking Vascular Insult and Optic Atrophy: A Case Report. [PDF]

Cureus
Varghese DE, Sudhakar S.
europepmc   +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

X-linked Emery-Dreifuss muscular dystrophy caused by a novel <i>FHL1</i> mutation: A case report. [PDF]

J Int Med Res
Zhang H, Tang S, Zhang W, Wang W, Tang W.   +4 more
europepmc   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 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