Results 241 to 250 of about 182,997 (357)

Serum enzyme studies in muscle disease: Part III Serum creatine kinase activity in relatives of patients with the Duchenne type of muscular dystrophy

, 1964
John Pearce, R. J. Pennington, J. N. Walton   +2 more
openalex   +1 more source

Studies of the carrier state in the Duchenne type of muscular dystrophy. I. Effect of exercise on serum creatine kinase activity. [PDF]

, 1967
P. Hudgson, D. Gardner‐Medwin, R. J. Pennington, J. N. Walton   +3 more
openalex   +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

Synthetic bottlebrush block copolymer prevents disease onset in Duchenne muscular dystrophy. [PDF]

Proc Natl Acad Sci U S A
Cohen H, Angulski ABB, Quick JD, Kuebler TS, Thompson BR, Bauer J, Hahn D, Townsend D, Hassler JF, Hackel BJ, Lodge TP, Sham YY, Bates FS, Metzger JM.   +13 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

Isolated Transaminitis as a Sentinel Sign of Duchenne Muscular Dystrophy in an Infant: A Case Report. [PDF]

Cureus
Khalid A, Chaudhry T, Liaqat A, Tufts L.
europepmc   +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

Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy. [PDF]

Neurol Genet
Heatwole CR, Luebbe E, Hamel J, Mongiovi PC, Ciafaloni E, Dilek N, Martens WB, Weber DR, Rashid H, Allen McKeown J, Smith CH, Howell S, Rosero SZ, Eichinger K, Baker LS, Dekdebrun JM, Hilbert JE, Varma A, Thornton CA, McDermott MP, Moxley RT.   +20 more
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

Cancer and benign tumors in myotonic dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy: a 23-year, single-center, retrospective study. [PDF]

Acta Myol
Bareja N, Desai B, Vytopil M, Srinivasan J, Ghasemi M.   +4 more
europepmc   +1 more source