Results 181 to 190 of about 304,862 (304)

Case of Muscular Dystrophy [PDF]

Proceedings of the Royal Society of Medicine, 1916
openaire   +2 more sources

Laevadosin for Muscular Dystrophy [PDF]

BMJ, 1964
openaire   +2 more sources

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy

Journal of Internal Medicine, EarlyView.
Abstract Lipodystrophy comprises a heterogeneous group of disorders characterized by reduced adipose tissue often associated with severe metabolic complications. Lipodystrophy may be genetic, acquired, or secondary to medical therapies initiated for other conditions.
Robert K. Semple, Martin Wabitsch, Baris Akinci, Saif Alyaarubi, Marjoleine F. Broekema, Rebecca J. Brown, Giovanni Ceccarini, Carolina Cecchetti, Solaf M. Elsayed, Antía Fernández‐Pombo, Alessandra Gambineri, Ingrid M. Jazet, Lotte Kleinendorst, Konstanze Miehle, Elif A. Oral, Flavia Prodam, Ferruccio Santini, David B. Savage, Nadia Shaukat Ali, Ekaterina Sorkina, Magdalena Szopa, Marie‐Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Julia von Schnurbein, David Araújo‐Vilar   +25 more
wiley   +1 more source

Case Report: Dental treatment under general anesthesia for a child with Ullrich congenital muscular dystrophy. [PDF]

Front Dent Med
Cheang S, Chen W, Wang S, Wang X, Wan K, Ma L.   +5 more
europepmc   +1 more source

Salivary Viscosity as a Non‐Invasive Candidate Biomarker Associated With Aspiration Risk in Oculopharyngeal Muscular Dystrophy

Journal of Oral Rehabilitation, EarlyView.
Patients with oculopharyngeal muscular dystrophy exhibit disease‐specific salivary hyperviscosity that tracks with dysphagia severity and airway invasion. Non‐invasive chairside screening of salivary viscosity may enable clinicians to stratify aspiration risk during routine care to prevent severe pulmonary complications.
Alex Zvulunov, Rawan Saif, Liraz Olmer, Merav Ben‐David, Limor Benyamini, Amir Dori, Noam Yarom, Lior Greenbaum, Ephraim Tzur, Silvina Friedlander‐Barenboim   +9 more
wiley   +1 more source

Muscular dystrophy-associated lamin variants disrupt cellular organization through a nucleolar-ribosomal axis. [PDF]

Sci Adv
Ding X, Kumari S, F Gregory E, Starr DA, Luxton GWG.   +4 more
europepmc   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Beyond Teleconsultation: Exploring the Role of Mobile Health Technologies in Duchenne Muscular Dystrophy. [PDF]

JMIR Form Res
Wasilewska E, Onofri A, Wasilewski A, Wasilewski J, Niedoszytko M, Nasiłowski J, Małgorzewicz S.   +6 more
europepmc   +1 more source

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source

Dystrophin-Deficient Muscular Dystrophy in a Jack Russell Terrier With a Large Deletion in the Canine DMD Gene. [PDF]

Vet Med Sci
Royaux E, Shelton GD, Jagannathan V, Leeb T, Drögemüller M.   +4 more
europepmc   +1 more source