Results 251 to 260 of about 54,763 (333)

TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant. [PDF]

Neurol Genet
Õunap K, Reimand T, Õiglane-Shlik E, Puusepp S, Mihkla L, Pajusalu S, Savarese M, Udd B.   +7 more
europepmc   +1 more source

Influence of Dietary Fat on the Efficacy of Agents Protecting Against Muscular Dystrophy in the Chick [PDF]

, 1963
Lilian M. Hutcheson, D.C. Hill, K.J. Jenkins   +2 more
openalex   +1 more source

Maximum Muscle Output and Electromyographic Activity of Masticatory Muscles in Persons With Parkinson's Disease. A Case–Control Study

Journal of Oral Rehabilitation, EarlyView.
ABSTRACT Background Parkinson's disease (PD) affects the motor system of the body; however, there is limited understanding of how the disease impacts the complex interaction of the masticatory muscles. Objective The purpose of this study is to investigate the maximum muscle output of the masticatory muscles during natural functions.
Sara Baram, Carsten Eckhart Thomsen, Esben Boeskov Øzhayat, Merete Karlsborg, Merete Bakke   +4 more
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

Production of Muscular Dystrophy in Pigs by Feeding Cottonseed Oil [PDF]

, 1961
Paul Lindberg, K. Orstadius
openalex   +1 more source

Genomic Screening Consortium for Australian Newborns (GenSCAN)

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Using genomic sequencing technology at population scale as a screening test holds the promise of improving outcomes for individuals with rare diseases through early detection and timely access to precision medicine. However, the incorporation of genomics into established newborn screening programmes raises many challenges, ranging ...
Natalie Taylor, Michelle Pirreca, Bruce Bennetts, Gladys Ho, Kirsten Boggs, Karin S. Kassahn, Lucy Anastasi, David Eugeny Godler, Mohammed Alshawsh, Sarah Norris, Joanne Scarfe, Tiffany Boughtwood, Gareth Baynam, Belinda Burns, Enzo Ranieri, Jade Caruana, Sebastian Lunke, Stephanie Best, Zornitza Stark   +18 more
wiley   +1 more source

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]

Glob Med Genet
Mathur P, Kaur A, Vijay U, Gupta A, Agarwal K, Agrawal L.   +5 more
europepmc   +1 more source

HISTOCHEMICAL EVIDENCE FOR A POSSIBLE PRIMARY BIOCHEMICAL LESION IN MUSCULAR DYSTROPHY [PDF]

, 1963
Geoffrey H. Bourne, M. Nelly Golarz
openalex   +1 more source

The importance of better natural history studies for Duchenne muscular dystrophy

Developmental Medicine &Child Neurology, EarlyView.
David J. Birnkrant
wiley   +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