Results 51 to 60 of about 2,852 (190)
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Annals of Neurology, Volume 98, Issue 5, Page 932-950, November 2025.Objective
Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth +140 morewiley +1 more sourceFoetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract
Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde +33 morewiley +1 more sourceIntraoperative Neurophysiological Monitoring in Patients With Marfan Syndrome Scoliosis
Orthopaedic Surgery, Volume 17, Issue 11, Page 3109-3115, November 2025.This study assessed intraoperative neurophysiological monitoring (IONM) efficacy in patients with Marfan syndrome‐associated scoliosis during posterior spinal fusion, showing 89.8% SEP and 92.4% MEP success rates. MFS patients with larger Cobb angles of the main curve and larger DAR values at pre‐operation suffer a higher risk of failed IONM monitoring.Kaiyi Cao, Wanyou Liu, Junyin Qiu, Yinkun Li, Zezhang Zhu, Yong Qiu, Benlong Shi +6 morewiley +1 more sourceMyomiRs Expression in Limb Girdle Muscular Dystrophy
IUBMB Life, Volume 77, Issue 10, October 2025.ABSTRACT
This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...G. Breveglieri, M. T. Altieri, M. T. Rodia, R. Costa, F. Frabetti, G. Cenacchi, G. Sabbioni, M. Borgatti +7 morewiley +1 more sourceLethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation
, 2009 Cutis laxa is characterised by redundant, inelastic skin with deep wrinkling and additional variable systemic involvement. Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a Hoyer, J, Geppert, J P, Rauch, A, Kraus, C, Hammersen, G +4 morecore +1 more sourceHumeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology
Clinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux +5 morewiley +1 more sourceInfantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model
Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar +15 morewiley +1 more sourceComprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
, 2008 Contains fulltext :
81654.pdf (Publisher’s version ) (Closed access)Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears ...Magnus Landgren, De Paepe, Anne M., Hester Y. Kroes, Michael Pope, Kingston, Helen, De Paepe, Anne, Anna Ficcadenti, Orazio Gabrielli, De Backer, Julie, Francisco Galán, Kroes, Hester Y, Callewaert, Bert L., Landgren, M., Callewaert, Bert, Loeys, Bart, LOEYS BL, Marielle E. Swinkels, Bart L. Loeys, Helen Kingston, Gabreilli, Orazio, Nathalie Van der Aa, Loeys, B.L., Salcedo, I., Coucke, Paul J., FICCADENTI A, Paepe, A.M. De, Foulds, N., Yaron, Y., Pope, M., Ficcadenti, Anna, Sascha Vermeer, Swinkels, M.E., Backer, J. de, Paul J. Coucke, Vermeer, S., Pope, Michael, Van der Aa, Nathalie, Loeys, Bart L., Landgren, Magnus, Swinkels, Marielle E., Carina Wallgren-Pettersson, Iratxe Salcedo, Kroes, H.Y., Boute, O., CALLEWAERT BL, Odile Boute, Aa, N. van der, Nicola Foulds, Swinkels, Marielle E, Bert L. Callewaert, Foulds, Nicola, Gabrielli, Orazio, Kingston, H., Callewaert, B.L., Wallgren-Pettersson, Carina, Ficcadenti, A., Galan, F., Gabrielli, O., Yuval Yaron, Anne M. De Paepe, Kroes, Hester Y., Coucke, Paul, Coucke, P.J., Boute, Odile, Salcedo, Iratxe, Julie De Backer, Galán, Francisco, Vermeer, Sascha, Yaron, Yuval, Wallgren-Pettersson, C. +69 morecore +1 more source
