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American Journal of Medical Genetics. Part A, 2021
Peroxisomes play an essential role in lipid metabolism via interaction with other intracellular organelles. The information about the role of the Acyl‐CoA‐binding domain containing‐protein 5 (ACBD5) in these interactions in human cells is emerging ...
M. Bartlett +4 more
semanticscholar +1 more source
Peroxisomes play an essential role in lipid metabolism via interaction with other intracellular organelles. The information about the role of the Acyl‐CoA‐binding domain containing‐protein 5 (ACBD5) in these interactions in human cells is emerging ...
M. Bartlett +4 more
semanticscholar +1 more source
Continuum, 2022
This article reviews the most common leukodystrophies and is focused on diagnosis, clinical features, and emerging therapeutic options.In the past decade, the recognition of leukodystrophies has exponentially increased, and now this class includes more than 30 distinct disorders. Classically recognized as progressive and fatal disorders affecting young
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This article reviews the most common leukodystrophies and is focused on diagnosis, clinical features, and emerging therapeutic options.In the past decade, the recognition of leukodystrophies has exponentially increased, and now this class includes more than 30 distinct disorders. Classically recognized as progressive and fatal disorders affecting young
openaire +2 more sources
Elevated Leukodystrophy Incidence Predicted From Genomics Databases
Pediatric Neurology, 2020 Background Leukodystrophies are genetic diseases affecting the white matter and leading to early death. Our objective was to determine leukodystrophy incidence, using genomics sequencing databases allele frequencies of disease-causing variants.
Pinar Bayrak-Toydemir +1 more
exaly +2 more sources
Neurology, 2020
Objective To compare disease progression between different onset forms of metachromatic leukodystrophy (MLD) and to investigate the influence of the type of first symptoms on the natural course and dynamic of disease progression.
C. Kehrer +9 more
semanticscholar +1 more source
Objective To compare disease progression between different onset forms of metachromatic leukodystrophy (MLD) and to investigate the influence of the type of first symptoms on the natural course and dynamic of disease progression.
C. Kehrer +9 more
semanticscholar +1 more source
Topics in Magnetic Resonance Imaging, 2006
The leukodystrophies comprise an ever-expanding group of rare central nervous system disorders with defined clinical, pathological, and genetic characteristics. The broader term, leukoencephalopathy, is applied to all brain white matter diseases, whether their molecular cause is known.
Gilles, Lyon +2 more
+5 more sources
The leukodystrophies comprise an ever-expanding group of rare central nervous system disorders with defined clinical, pathological, and genetic characteristics. The broader term, leukoencephalopathy, is applied to all brain white matter diseases, whether their molecular cause is known.
Gilles, Lyon +2 more
+5 more sources
2012
Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and ...
Seth J, Perlman, Soe, Mar
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Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and ...
Seth J, Perlman, Soe, Mar
openaire +3 more sources
The latest on leukodystrophies
Current Opinion in Neurology, 2004Important advances in our understanding of genetic disorders of the white matter have been made and are discussed here.It has recently been discovered that mutations in the genes encoding the five subunits of eukaryocytic initiation factor 2B (eIF2B) are the cause of vanishing white-matter disease/childhood ataxia with central hypomyelination syndrome.
Raphael, Schiffmann +1 more
openaire +2 more sources
Nature Reviews Neurology, 2018
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood.
Wolfgang, Köhler +2 more
openaire +2 more sources
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood.
Wolfgang, Köhler +2 more
openaire +2 more sources
Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy
Neuropediatrics, 2021KARS encodes lysyl-tRNA synthetase, which is essential for protein translation. KARS mutations sometimes cause impairment of cytoplasmic and mitochondrial protein synthesis, and sometimes lead to progressive leukodystrophies with mitochondrial signature ...
Y. Murofushi +8 more
semanticscholar +1 more source
The Neurologist, 2009
The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate ...
Daniel J, Costello +2 more
openaire +2 more sources
The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate ...
Daniel J, Costello +2 more
openaire +2 more sources