Results 111 to 120 of about 1,143 (221)

Oxygenaging: A Physiological Framework for Geroscience

Aging Cell, Volume 25, Issue 9, September 2026.
Mechanisms of aging disrupt oxygen homeostasis through three converging processes: oxygen‐cascade impairment, microvascular dysfunction, and molecular maladaptation. “Oxygenaging” integrates these domains to explain how declining oxygen delivery and utilization drive mitochondrial instability and amplify the effect of the hallmarks of aging.
Stefano Donega, Kenneth W. Fishbein, Paolo Dominelli, Allison B. Herman, Rafael de Cabo, Myriam Gorospe, Luigi Ferrucci   +6 more
wiley   +1 more source

Comorbidities in spinal muscular atrophy and their impact on the course of the underlying disease: a real-life observational study. [PDF]

BMC Musculoskelet Disord
Błauciak M, Ubysz J, Wieczorek M, Koszewicz M.   +3 more
europepmc   +1 more source

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 9, Page 1316-1324, September 2026.
This original article is commented on by Domínguez‐Carral and Ortigoza‐Escobar on pages 1182–1183 of this issue. Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry.
Larissa R. Heideman, Nicole I. Wolf, Moritz Thiel, Jolanda H. Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen‐Broekhuizen, J. Jasper Deuring, Annemieke I. Buizer, Laura A. Van De Pol   +9 more
wiley   +1 more source

Body Weight and Range of Motion as Predictors of Trunk Asymmetry in Children With Spinal Muscular Atrophy: A Prospective Functional Assessment. [PDF]

Med Sci Monit
Gajewska E, Bieniaszewska A, Sobieska M.
europepmc   +1 more source

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, Volume 82, Issue 9, Page 8375-8390, September 2026.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies. [PDF]

Genes (Basel)
Škarica M, Acsadi G, Živković SA.
europepmc   +1 more source

Late‐Onset Tay–Sachs Disease With SMALED‐Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background Late‐onset Tay–Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantile form by presenting with milder and heterogeneous neurological manifestations, including lower motor neuron phenotypes.
Rodrigo Siqueira Soares Frezatti, Trajano Aguiar Pires Gonçalves, Manoella Guerra de Albuquerque Bueno, André Clériston José dos Santos, Lindsay A. Wilson, Natalia Dominik, Michael G. Hanna, Jasper Morrow, Alex M. Rossor, Mary M. Reilly, Pedro José Tomaselli, Wilson Marques Junior   +11 more
wiley   +1 more source

Real-world evidence of Nusinersen treatment for patients with spinal muscular atrophy in the Kingdom of Saudi Arabia: Initial insights from the Saudi national spinal muscular atrophy program. [PDF]

Saudi Med J
Al-Jedai AH, Almudaiheem HY, Alaama TY, Alsaman ASS, Abdo Bashiri F, Almuhaizae MA, Alghamdi FA, Alsakran AA, Matter EAY, Ibrahim FZ.   +9 more
europepmc   +1 more source

Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease. We characterize a motor‐predominant axonal neuropathy presentation associated with biallelic SCO2 variants.
Adriana P. Rebelo, Katie Lutz, Tiffany Grider, Craig M. Zaidman, Michael E. Shy, Stephan Zuchner   +5 more
wiley   +1 more source

Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study. [PDF]

J Neurol Neurosurg Psychiatry
Coratti G, Bovis F, Franchino V, Montes J, Sansone VA, Dunaway Young S, Cutrì C, Pasternak A, Pera MC, Pane M, Glanzman A, Pegoraro E, Duong T, Sogus E, Sframeli M, Messina S, Cavalcante E, Scoto MC, D'Amico A, Rodriguez-Torres R, Mongini T, Maggi L, Coccia M, Filosto M, Zuccarino R, Masson R, Ricci G, Bruno C, Ruggiero L, Vacchiano V, D'errico E, Verriello L, Nigro V, Scarpini G, Garibaldi M, Turri M, Ticci C, Berardinelli A, Agosto C, Ricci F, Zolkipli-Cunningham Z, Darras BT, Day J, Hirano M, Muntoni F, Finkel RS, Mercuri E, international SMA consortium (ISMAC).   +47 more
europepmc   +1 more source