Results 71 to 80 of about 11,658 (188)

Emerging Molecular‐Genetic Families in Dystonia: Endosome‐Autophagosome‐Lysosome and Integrated Stress Response Pathways

Movement Disorders, Volume 40, Issue 1, Page 7-21, January 2025.
Abstract Advances in genetic technologies and disease modeling have greatly accelerated the pace of introducing and validating molecular‐genetic contributors to disease. In dystonia, there is a growing convergence across multiple distinct forms of the disease onto core biological processes.
Nicole Calakos, Michael Zech
wiley   +1 more source

Metachromatic Leucodystrophy: A Case Report

Journal of Karnali Academy of Health Sciences, 2021
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive inherited disease, which is caused by a deficiency in the enzyme activity of Arylsulfatase A (ARSA). Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside
Ramchandra Bastola, Shree Krishna Shrestha, Amrita Ghimire, Sunita Ghimire   +3 more
doaj   +2 more sources

Biomarkers for neurodegenerative diseases in regulatory decision‐making by the European Medicines Agency

Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 11, Issue 1, January-March 2025.
Abstract INTRODUCTION Biomarkers (BMs) are valuable tools to facilitate early diagnosis of (subtypes of) diseases, improve patient selection and stratification, and detect therapeutic effects or safety concerns. This study explores the extent to which BMs are utilized in the development of treatments for neurodegenerative diseases (NDDs), as well as ...
Audrey M. M. Hermans, Elisabeth Bakker, Viktoriia Starokozhko, Loes den Otter, André J. A. Elferink, Angela Bradshaw, Lorenzo Guizzaro, Peter G. M. Mol, Anna M. G. Pasmooij   +8 more
wiley   +1 more source

Prognostic Factors Associated With Increased Mortality in Pediatric Veno‐Occlusive Disease Following Hematopoietic Cell Transplantation

Clinical Transplantation, Volume 38, Issue 12, December 2024.
ABSTRACT Background Hepatic veno‐occlusive disease (VOD) is a life‐threatening complication of hematopoietic cell transplantation (HCT) and is categorized as a transplant‐related, systemic endothelial disease. Severe VOD can lead to multi‐organ dysfunction (MOF) and is associated with a high mortality rate. Objective To evaluate the incidence of VOD in
Irina Zaidman, Natalie Barsoum, Ehud Even‐Or, Miriam Daher, Adi Avniel Aran, Polina Stepensky, Aharon Gefen   +6 more
wiley   +1 more source

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

BMC Research Notes, 2019
Objective To describe the genetic variants in the ARSA gene in Sri Lankan patients with metachromatic leukodystrophy (MLD). As the variant profile of MLD in the Sri Lankan population is currently unknown.
D. Hettiarachchi, V. H. W. Dissanayake
doaj   +1 more source

Metachromatic leukodystrophy: pediatric presentation and the challenges of early diagnosis.

Revista da Associação Médica Brasileira, 2020
Metachromatic leukodystrophy (MLD; OMIM 250100) is an autosomal recessive hereditary disease caused by a deficiency of the Arylsulfatase A (ARSA) enzyme and, more rarely, of Saposin B, which is responsible for the interaction with the sulfatide, allowing
Frederico Mendes Borges, M. J. G. Costa, Z. Carneiro, C. Lourenço   +3 more
semanticscholar   +1 more source

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia

Epilepsia, Volume 65, Issue 11, Page 3303-3323, November 2024.
Abstract Objective POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non‐coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy.
Joseph D. Symonds, Kristen L. Park, Cyril Mignot, Stewart Macleod, Martin Armstrong, Houman Ashrafian, Geneviève Bernard, Kathleen Brown, Andreas Brunklaus, Mary Callaghan, Georg Classen, Julie S. Cohen, Ioana Cutcutache, Jean‐Madeleine de Sainte Agathe, David Dyment, Katherine S. Elliot, Arnaud Isapof, Shelagh Joss, Boris Keren, Michael Marble, Amy McTague, Matthew Osmond, Matthew Page, Marc Planes, Konrad Platzer, Sylvia Redon, James Reese, Margarita Saenz, Constance Smith‐Hicks, Daniel Stobo, Christian Stockhaus, Marie‐Laure Vuillaume, Nicole I. Wolf, Emma L. Wakeling, Grace Yoon, Julian C. Knight, Sameer M. Zuberi   +36 more
wiley   +1 more source

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals

Brazilian Journal of Medical and Biological Research, 1999
Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals
C.G. Pedron, P.A. Gaspar, R. Giugliani, M.L.S. Pereira   +3 more
doaj   +1 more source

Structure and composition of sulfatides isolated from livers of patients with metachromatic leukodystrophy: galactosyl sulfatide and lactosyl sulfatide

Journal of Lipid Research, 1974
The livers of four patients with metachromatic leukodystrophy contained galactosyl sulfatide and lactosyl sulfatide, whereas these substances were undetectable in normal human liver.
Mutsumi Sugita, John T. Dulaney, Hugo W. Moser   +2 more
doaj  

Remitting - Relapsing Polyneuropathy In Juvenile Metachromatic Leukodystrophy

Annals of Indian Academy of Neurology, 2004
A five-year-old girl manifested with acute relapsing polyradiculo-neuropathy. Elevated cerebrospinal fluid proteins, electro-physiological evidence of conduction block and remitting course suggested possible acquired demyelinating radiculoneuropathy ...
Taly AB, Santosh V, Balamurugan N, Arunodaya GR, Christopher R, Jayakumar PN   +5 more
doaj