Results 91 to 100 of about 21,243 (259)

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, EarlyView.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 2 : retrievers and other breed types [PDF]

, 2016
A Belgian population of ten breeds with a low to moderately low genetic diversity or which are relatively popular in Belgium, i.e. Bichon frise, Bloodhound, Bouvier des Flandres, Boxer, Cavalier King Charles spaniel, Irish setter, Papillon, Rottweiler ...
Beckers, Evy, Peelman, Luc, Ronsyn, L, Van Poucke, Mario   +3 more
core  

FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications [PDF]

, 2019
The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. In humans it has
Auer-Grumbach, M, Baets, J, Bassi, MT, Bauer, P, D'Angelo, MG, De Bleecker, Jan, De Jonghe, P, Debyser, M, Deconinck, T, Döbler-Neumann, M, Eckstein, KN, Giese, AK, Hörtnagel, K, Janauschek, M, Krägeloh-Mann, I, Lindig, T, Lopez de Munain, A, Münchau, A, Ortibus, E, Plecko, B, Pujol, A, Rattay, TW, Reichbauer, J, Schöls, L, Schüle, R, Smets, K, Söhn, AS, Wiethoff, S, Wilken, B, Züchner, S   +29 more
core   +1 more source

Common data elements of cerebral palsy registries in Arabic‐speaking countries: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
This scoping review mapped existing cerebral palsy registries in Arabic‐speaking countries, highlighting their core data elements and alignment with international registry frameworks to guide future regional harmonization. Abstract Aim To (1) identify and extract common data elements (CDEs) reported in registry‐ and population‐based cerebral palsy (CP)
Nihad Ali Almasri, Carl J. Dunst
wiley   +1 more source

Generation of Oligodendrocyte Progenitor Cells From Mouse Bone Marrow Cells. [PDF]

, 2019
Oligodendrocyte progenitor cells (OPCs) are a subtype of glial cells responsible for myelin regeneration. Oligodendrocytes (OLGs) originate from OPCs and are the myelinating cells in the central nervous system (CNS).
Casella, Giacomo, Han, Juan-Juan, Jia, Ling-Yu, Li, Xing, Lu, Xin-Yu, Rostami, A. M., Tian, Jing, Yang, Ting, Ye, Ze-Qing, Zhang, Yuan   +9 more
core   +1 more source

Clinical and genetic characterization of leukoencephalopathies in adults [PDF]

, 2017
Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement
Adams, M, Bajaj, N, Bugiardini, E, Chataway, J, Davagnanam, I, Fox, NC, Freua, F, Herron, B, Houlden, H, Hughes, D, Kinsella, JA, Kok, F, Lakshmanan, R, Laurà, M, Lynch, DS, Macedo-Souza, LI, McMonagle, P, Merwick, A, Morrison, PJ, Mummery, CJ, Murphy, E, Pittman, A, Reilly, MM, Rodrigues Brandão de Paiva, A, Rossor, AM, Schott, JM, Tavares Lucato, L, Warren, JD, Zhang, WJ   +28 more
core   +1 more source

From mechanism to phenotype: What fits in a basket trial

Epilepsia, EarlyView.
Kette D. Valente
wiley   +1 more source

Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop

Epilepsia, EarlyView.
Abstract Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its ...
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil‐Nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Günter Krämer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert‐Bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina von Stülpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano   +40 more
wiley   +1 more source

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) [PDF]

, 2017
Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system ...
Antonarakis, Stylianos E., Atzori, Cristiana, Brusco, Alfredo, Brussino, Alessandro, Canale, Claudio, Di Gregorio, Eleonora, Ferrera, Denise, Ferrero, Enza, Gasparini, Laura, Giorgio, Elisa, Guipponi, Michel, Imperiale, Daniele, Pennacchio, Len A., Robyr, Daniel, Santoni, Federico, Spielmann, Malte, Stamoulis, Georgios, Vaula, Giovanna   +17 more
core  

Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The vital cofactors NADH and NADPH are prone to hydration, forming hydroxylated redox‐inactive derivatives (NADHX and NADPHX) in cells. These damaged metabolites are repaired by two highly conserved enzymes, an NAD(P)HX dehydratase (NAXD) and an NAD(P)HX epimerase (NAXE).
Myrto Patraskaki, Najmesadat Seyedkatouli, Lisa Schlicker, Marc O. Warmoes, Maria Lorena Cordero‐Maldonado, Ursula Heins‐Marroquin, Carole L. Linster   +6 more
wiley   +1 more source