Results 201 to 210 of about 31,520 (324)

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre

International Journal of Developmental Neuroscience, Volume 86, Issue 2, April 2026.
Children with congenital Zika syndrome followed at a neurorehabilitation centre demonstrated severe neurological impairment characterized by microcephaly, cortical malformations, intracranial calcifications and multifocal epileptiform activity. Integrated clinical, neuroimaging and video‐electroencephalographic (EEG) findings highlight the extensive ...
Adilina Soares Romeiro Rodrigues, Pedro Ykaro Fialho Silva, Ramiro Pinheiro Rodrigues, Kylvia Giselle Fernandes Dantas Pinho, Sthefani da Costa Penha, Álvaro Jorge Madeiro Leite   +5 more
wiley   +1 more source

Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review. [PDF]

BMC Neurol
Takhman M, Shihab R, Hattab M, Abdallah HO, Bdair M, Gonorazky HD, Alawneh I.   +6 more
europepmc   +1 more source

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

DLG4-Related Synaptopathy and Coexisting Fabry's Disease: A Case Report. [PDF]

Ann Indian Acad Neurol
San-Juan D, Benitez-Alonso EO, López-Castellanos FM, Amador-Machuca CA, Gutiérrez-Maciel D, Camacho-Castillo EZ.   +5 more
europepmc   +1 more source

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, Volume 101, Issue 2, Page 751-803, April 2026.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B ‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, Volume 109, Issue 4, Page 679-696, April 2026.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report. [PDF]

Reports (MDPI)
Gragnaniello V, Pozza A, Cazzorla C, Gueraldi D, Di Salvo G, Burlina AB.   +5 more
europepmc   +1 more source

Severe congenital cutis laxa with generalized muscle hypotonia due to ATP6V1A mutations

, 2020
Vogt, G, El Choubassi, N, Holtgrewe, M, Krause, S, Lekaj, A, Horvath, R, Schuelke, M, Gardeitchik, T, Mundlos, S, Herczegfalvi, A, Lochmueller, H, Karcagi, V, Kornak, U, Fischer-Zirnsak, B   +13 more
openaire   +2 more sources

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Immediate Effect of LED Cluster on Masticatory Muscles in Children and Adolescents Diagnosed With Down Syndrome: A Pilot Study. [PDF]

J Lasers Med Sci
Beltramin RZ, Rocha MM, Politti F, Deana AM, Mesquita-Ferrari RA, Fernandes KPS, Sobral APT, Bussadori SK.   +7 more
europepmc   +1 more source