Results 41 to 50 of about 8,917 (217)

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Is Surgical Treatment for Obstructive Sleep Apnea in Infants and Toddlers Safe? A Retrospective Comparative Analysis

Clinical Otolaryngology, EarlyView.
ABSTRACT Objective To assess if surgery for Obstructive Sleep Apnea Disorder (OSAD) is safe for infants and toddlers. Methods Retrospective cohort study of paediatric patients undergoing OSA surgery; partial or complete tonsillectomy with adenoidectomy, tonsillectomy without adenoidectomy and adenoidectomy.
Daniel Levi, Daniel Yafit, Aviad Sapir, Yotam Heilig, Tomer Kerman, Oriya Damri, Inbal Golan‐Tripto, Daniel Michael Kaplan, Oren Ziv   +8 more
wiley   +1 more source

EEG Brain Rhythms During Resting‐State Wakefulness and Sleep in Elderly Expert Meditators

Journal of Sleep Research, EarlyView.
Compared to controls, elderly expert meditators exhibited (1) more preserved resting‐state brain activity, (2) less altered sleep architecture, and (3) EEG features indicative of heightened cognitive states during NREM sleep. Importantly, several of the metrics that differed between groups also showed consistent correlations with meditation expertise ...
Pierre Champetier, Anaïs Hamel, Claire André, Valentin Ourry, Tristan Lacroix, Stéphane Rehel, Léa Chauveau, Sacha Haudry, Françoise Bertran, Vincent de la Sayette, Denis Vivien, Gaël Chételat, Antoine Lutz, Géraldine Rauchs, Medit‐Ageing Research Group, Alexandre Bejanin, Anne Chocat, Fabienne Collette, Sophie Dautricourt, Robin De Flores, Marion Delarue, Harriet Demnitz‐King, Hélène Espérou, Séverine Fauvel, Francesca Felisatti, Eglantine Ferrand Devouge, Eric Frison, Julie Gonneaud, Oriane Hébert, Olga Klimecki, Elizabeth Kuhn, Brigitte Landeau, Valérie Lefranc, Natalie Marchant, Florence Mezenge, Cassandre Palix, Anne Quillard, Florence Requier, Daniel Roquet, Edelweiss Touron, Anne‐Laure Turpin, Patrik Vuilleumier, Tim Whitfield, Miranka Wirth   +43 more
wiley   +1 more source

Muscle biopsy in Pompe disease [PDF]

Arquivos de Neuro-Psiquiatria, 2013
Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases.Methods:A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases).Results:Vacuoles with or without glycogen storage were ...
Werneck LC, Lorenzoni PJ, Kay CS, Scola RH   +3 more
openaire   +6 more sources

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

Orphanet Journal of Rare Diseases, 2021
Background In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreversible damage to the diaphragm ...
Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens, Pieter A. van Doorn   +11 more
doaj   +1 more source

Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease

Stem Cell Research, 2022
Pompe disease results from GAA mutations that leads to lysosomal glycogen accumulation and cardiac and skeletal muscle pathology. We have previously generated an infantile-onset Pompe disease patient-derived human-induced pluripotent stem cells (iPSCs ...
Wenjun Huang, Yafei Zhou, Jie Wang, Congshan Jiang, Yanmin Zhang, Rui Zhou   +5 more
doaj   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source