Results 271 to 280 of about 342,419 (394)

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

Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families. [PDF]

Iran Biomed J
Soltani N, Shahbazi Z, Karimipoor M, Fallah MS, Zafarghandi Motlagh F, Amini M, Jamali M, Bagherian H, Zeinali R, Zeinali S.   +9 more
europepmc   +1 more source

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients

Pediatric Dermatology, EarlyView.
ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho, Richard M. Haber, Janan Mohamad, Ofer Sarig, Eli Sprecher, Renée Perrier, Dana Boctor, Michele Ramien   +7 more
wiley   +1 more source

The changed transcriptome of muscular dystrophy and inflammatory myopathy : contributions of non-coding RNAs to muscle damage and recovery [PDF]

, 2019
De Paepe, Boel
core   +1 more source

Phenotyping Neurodisability in Hospital Records in England: A National Birth Cohort Using Linked Administrative Data

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Children with neurodisability often have complex healthcare and educational needs. Evidence from linked administrative health and education data could improve joint working between services. Objective To develop a diagnostic code list to identify neurodisability in hospital admission records; to assess the representativeness of this
Ania Zylbersztejn, Philippa Rees, Rashmi D'Souza, Stuart Logan, Ayana Cant, Laura Gimeno, Vincent Nguyen, Jugnoo Rahi, Ruth Gilbert, Katie Harron, on behalf of HOPE Study, Bianca De Stavola, Lorraine Dearden, Johnny Downs, William Farr, Tamsin Ford, Kate Lewis, Matthew Lilliman, Jacob Matthews, Jennifer Saxton, Isaac Winterburn, Ruth Blackburn, Milagros Ruiz, Matthew Jay, Tony Stone, Farzan Ramzan   +25 more
wiley   +1 more source

In Vivo-Like Scaffold-Free 3D In Vitro Models of Muscular Dystrophies: The Case for Anchored Cell Sheet Engineering in Personalized Medicine. [PDF]

Adv Healthc Mater
Shahin-Shamsabadi A, Cappuccitti J.
europepmc   +1 more source

Techniques for subretinal injections in animals

Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.
Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
wiley   +1 more source

On RNA-programmable gene modulation as a versatile set of principles targeting muscular dystrophies. [PDF]

Mol Ther
Capelletti S, García Soto SC, Gonçalves MAFV.   +2 more
europepmc   +1 more source

The Testis in Myotonic Muscular Dystrophy: A Clinical and Pathologic Study with a Comparison with the Klinefelter Syndrome1

, 1963
William D. Drucker, William A. Blanc, Lewis P. Rowland, Melvin M. Grumbach, Nicholas P. Christy   +4 more
openalex   +1 more source

Diagnostic approach to the congenital muscular dystrophies

Neuromuscular Disorders, 2014
C. Bönnemann, Ching H. Wang, S. Quijano-roy, N. Deconinck, E. Bertini, A. Ferreiro, F. Muntoni, C. Sewry, C. Béroud, K. Mathews, S. Moore, Jonathan Bellini, A. Rutkowski, K. North   +13 more
semanticscholar   +1 more source