Results 61 to 70 of about 21,243 (259)

Non‐Syndromic Tumefactive Demyelinating Lesions in the Pediatric Population: Four Case Reports and Review of the Literature

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Tumefactive demyelinating lesions (TDLs) are large lesions (> 2 cm) seen in demyelinating syndromes such as multiple sclerosis, myelin oligodendrocyte glycoprotein antibody‐associated disorder, and neuromyelitis optica spectrum disorder. They rarely occur in children and most often have a monophasic course.
Elizabeth C. Ballinger, Hannah F. Todd, Jonathan M. Yarimi, Timothy E. Lotze, Nikita M. Shukla, Kristen S. Fisher, Alexander J. Sandweiss   +6 more
wiley   +1 more source

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

Scientific Reports, 2021
This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani   +6 more
doaj   +1 more source

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

Cells, 2021
Biallelic pathogenic variants in CLPP, encoding mitochondrial matrix peptidase ClpP, cause a rare autosomal recessive condition, Perrault syndrome type 3 (PRLTS3). It is characterized by primary ovarian insufficiency and early sensorineural hearing loss,
Jana Key, Sylvia Torres-Odio, Nina C. Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A. Phillip West, Holger Prokisch, Peter Freisinger, William G. Newman, Stavit Shalev, Stephan A. Sieber, Ilka Wittig, Georg Auburger   +13 more
doaj   +1 more source

Patient-powered research networks: building capacity for conducting patient-centered clinical outcomes research. [PDF]

, 2014
The Patient-Centered Outcomes Research Institute (PCORI) recently launched PCORnet to establish a single inter-operable multicenter data research network that will support observational research and randomized clinical trials.
Andrew A. Nierenberg, Bruce Robinson, Esi Morgan Dewitt, Florian Eichler, Holly Peay, Janice Buelow, John Walsh, Kathleen E. Sullivan, Liz Horn, Marc Natter, Mark Pletcher, Megan O'Boyle, Michael D Kappleman, Paul Avillach, Peter A. Merkel, Rachael Fleurence, Rebecca Sutphen, Richard Colletti, Richard Mularski, Robert McBurney, Sarah E Daugherty, Sarita Wahba, Seth Ginsberg, Sue Friedman, Susan Redline   +24 more
core   +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

Adeno-associated virus and lentivirus vectors: a refined toolkit for the central nervous system. [PDF]

, 2016
The last two decades have witnessed the increasing instrumentalization of viruses, which have progressively evolved into highly potent gene transfer vehicles for a wide spectrum of applications.
Blessing, D., Déglon, N.
core   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease [PDF]

, 2016
Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by defective beta-galactosylceramidase (GALC), a lysosomal enzyme responsible for cleavage of several key substrates including psychosine.
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core   +3 more sources

Tumefactive Inflammatory Lesions in Juvenile Metachromatic Leukodystrophy [PDF]

, 2021
K Meier, J Grtner, P Huppke
openalex   +1 more source