Results 211 to 220 of about 306,770 (339)

Hereditary epithelial dystrophy of the cornea: Meesmann type. [PDF]

, 1966
P. P. H. Alkemade, A. T. van Balen
openalex   +1 more source

LCN2‐ACOD1 Signalling Affects the Post‐Injury Regeneration of Skeletal Muscle Through Mediating Ferroptosis

Cell Proliferation, EarlyView.
LCN2 mediates the suppression of C2C12 myoblast proliferation and myotube formation via erastin‐induced ferroptosis. Mechanistically, the LCN2‐ACOD1 axis regulates skeletal muscle growth via mitochondria‐associated ferroptosis, providing a theoretical basis for the prevention and therapy of muscle‐related diseases.
Xiaojing Hao, Hongwei Shi, Di Wu, Rui Liang, Tong Zhao, Wen Sun, Yue Wang, Xiuju Yu, Xiaomao Luo, Yi Yan, Jiayin Lu, Haidong Wang, Juan Wang   +12 more
wiley   +1 more source

Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome. [PDF]

Clin Case Rep
Ahsan MU, Shaheen S, Ahmed S.
europepmc   +1 more source

Cardiac involvement in Becker muscular dystrophy

, 2008
Josef Finsterer, Claudia Stöllberger
openalex   +1 more source

AI-Assisted Optical Coherence Tomography Segmentation for Enhanced Diagnosis of Inherited Retinal Diseases. [PDF]

Transl Vis Sci Technol
Peter VG, Hayoz M, Scandella D, Sznitman R, Escher P, Zinkernagel MS.   +5 more
europepmc   +1 more source

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

, 2014
Stephanie E Wallace, Jessie H. Conta, Thomas Winder, Tobias Willer, Jamie M. Eskuri, Richard Haas, Kathleen Patterson, Kevin P. Campbell, Steven A. Moore, Sídney M. Gospe   +9 more
openalex   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report. [PDF]

Cureus
Marques L, Lipari Pinto P, Coelho J, Florindo C, Soeiro E Sá M, Rodrigues R, Sousa A, Gaspar A.   +7 more
europepmc   +1 more source

Clinical implication of maximal voluntary ventilation in myotonic muscular dystrophy

, 2019
Mi Ri Suh, Dong Hyun Kim, Jiho Jung, Bitnarae Kim, Jang Woo Lee, Won Ah Choi, Seong‐Woong Kang   +6 more
openalex   +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