Results 101 to 110 of about 1,154 (251)

Spinal muscular atrophy type I in a 3.5-month-old male infant: A case report. [PDF]

Medicine (Baltimore)
Nawaz RN, Asjad W, Bashir R, Saeed SAA, Tayyab MZ, Khalid M.   +5 more
europepmc   +1 more source

Spaceborne and spaceborn: Physiological aspects of pregnancy and birth during interplanetary flight

Experimental Physiology, EarlyView.
Abstract Crewed interplanetary return missions that are on the planning horizon will take years, more than enough time for initiation and completion of a pregnancy. Pregnancy is viewed as a sequence of processes – fertilization, blastocyst formation, implantation, gastrulation, placentation, organogenesis, gross morphogenesis, birth and neonatal ...
Arun V. Holden
wiley   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

Risdiplam therapy in adult patients with Spinal muscular Atrophy (SMA). A 24-month-real-world experience at a single muscular centre. [PDF]

Acta Myol
Cesarone E, Picillo E, Scutifero M, Passamano L, Nigro V.   +4 more
europepmc   +1 more source

Editorial: Diagnosis of childhood spinal muscular atrophy. [PDF]

BMJ, 1973
openaire   +2 more sources

Humanising Child Death: The Creation and Subsequent Development of Children's Palliative Care as a Distinct Clinical, Educational and Research Speciality

Journal of Advanced Nursing, EarlyView.
Jane Noyes
wiley   +1 more source

Intramuscular pathways of maladaptation in overtraining syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend The transition from adaptive overreaching to maladaptive overtraining and mechanisms through which excessive training load can lead to performance decline. Four interconnected pathophysiological domains are highlighted: neural fatigue, involving both central and peripheral components such as altered sensory feedback and reflex ...
Emily Shorter, Oscar Horwath, Sabrina Tzivia Barsky, Ferdinand von Walden, Johanna T. Lanner   +4 more
wiley   +1 more source

Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)?

Clinical and Public Health Guidelines, Volume 3, Issue 3, July 2026.
ABSTRACT Introduction Developing Clinical Practice Guidelines (CPGs) is resource‐intensive, making it essential to prioritise those CPG projects that are most needed. One of the rules pertains to prevalence, which excludes virtually all guideline development for rare diseases. Still, guidance is needed for their management.
Iméze J. Hieltjes, Charlotte M. W. Gaasterland, Marieke Hermsen, Anne Marie van Wermeskerken, Ilse van Herk, Johanna H. van der Lee   +5 more
wiley   +1 more source

Lung Function and Respiratory Muscle Strength in Symptomatic Children and Adults With Spinal Muscular Atrophy Treated With Nusinersen. [PDF]

Neurology
Vercoelen F, Arts LAP, de Bruijne MEM, van Eijk RPA, Vermeer LM, Wadman RI, Verweij-van den Oudenrijn LP, Zoodsma RS, Cuppen I, Bartels B, Asselman FL, Wijngaarde CA, van der Pol WL, Veldhoen ES.   +13 more
europepmc   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source