Results 41 to 50 of about 21,243 (259)

Shetland Sheepdog Leukodystrophy [PDF]

Journal of Veterinary Internal Medicine, 2001
Three litters of Shetland Sheepdog pups born to the same bitch and 2 different sires were studied because of uncontrollable seizures or progressive neurologic dysfunction. Four pups from the 1st litter, 1 from the 2nd litter, and 4 from the 3rd litter had severe diffuse spongy degeneration of the white matter of the brain and spinal cord.
S L, Wood, J S, Patterson
openaire   +2 more sources

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature

Case Reports in Endocrinology, 2015
Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. Case Presentation.
Emma Billington, Geneviève Bernard, William Gibson, Bernard Corenblum   +3 more
doaj   +1 more source

Human Glial Progenitor Cells Effectively Remyelinate the Demyelinated Adult Brain

Cell Reports, 2020
Summary: Neonatally transplanted human glial progenitor cells (hGPCs) can myelinate the brains of myelin-deficient shiverer mice, rescuing their phenotype and survival.
Martha S. Windrem, Steven J. Schanz, Lisa Zou, Devin Chandler-Militello, Nicholas J. Kuypers, Maiken Nedergaard, Yuan Lu, John N. Mariani, Steven A. Goldman   +8 more
doaj   +1 more source

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. [PDF]

, 2018
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted ...
Bellet, Jane, Del Gaudio, Daniela, El-Dairi, Mays, Goldstein, David B, Hendon, Laura G, Jasien, Joan, Jiang, Yong-Hui, Jones, Kelly L, Kansagra, Sujay, Keels, Martha Ann, Kranz, Peter G, Lark, Robert K, Leung, Marco L, McConkie-Rosell, Allyn, Nagaraj, Shashi K, Noel, Richard, Parker, Collette C, Pena, Loren DM, Rapisardo Horn, Sarah, Schoch, Kelly, Shashi, Vandana, Smith, Edward C, Spillmann, Rebecca C, Stong, Nicholas, Sullivan, Jennifer A, Undiagnosed Diseases Network Members, Walley, Nicole, Wechsler, Daniel SG   +27 more
core   +1 more source

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches

Frontiers in Cellular Neuroscience, 2021
Leukodystrophies are a class of rare inherited central nervous system (CNS) disorders that affect the white matter of the brain, typically leading to progressive neurodegeneration and early death. Hypomyelinating leukodystrophies are characterized by the
Stefanie Perrier, Stefanie Perrier, Mackenzie A. Michell-Robinson, Mackenzie A. Michell-Robinson, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard   +8 more
doaj   +1 more source

A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review

Brain and Behavior, 2019
Introduction Leukodystrophy is a group of hereditary leukoencephalopathies predominantly affecting the white matter. Multiple genes and mutations have been reported to be associated with this disorder.
Jian‐Yong Wang, Song‐Fang Chen, Hong‐Qiu Zhang, Meng‐Yan Wang, Jian‐Hong Zhu, Xiong Zhang   +5 more
doaj   +1 more source

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review

Frontiers in Neurology, 2023
BackgroundLeukodystrophies are hereditary white matter diseases characterized by genetic polymorphisms and considerable phenotypic variability. They can be classified into myelin and non-myelin malformations.
Lei Sun, Weihong Lin, Hongmei Meng, Wuqiong Zhang, Shuai Hou   +4 more
doaj   +1 more source

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination [PDF]

, 2019
Background and purpose Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases.
Al-Shahrani, SA, Almass, R, Almutairi, FB, Alorainy, IA, AlQuait, L, Alsagob, M, AlSayed, MD, AlShammari, M, AlZaidan, H, Bakhtiari, S, Beiraghi Toosi, M, Bierhals, T, Chelban, V, Chirita-Emandi, A, Colak, D, Davagnanam, I, Efthymiou, S, Ghayoor Karimiani, E, Groppa, S, Hamad, MH, Haridy, NA, Houlden, H, Huma, R, Imtiaz, F, Johannsen, J, Kaya, N, Kloth, K, Kruer, MC, Malintan, NT, Mankad, K, Maroofian, R, Puiu, M, Qari, A, Rahbeeni, Z, Ramzan, K, Salih, MA, Vandrovcova, J, Wood, NW   +37 more
core   +2 more sources

Astroglia in Leukodystrophies

, 2019
Leukodystrophies are genetically determined disorders affecting the white matter of the central nervous system. The combination of MRI pattern recognition and next-generation sequencing for the definition of novel disease entities has recently demonstrated that many leukodystrophies are due to the primary involvement and/or mutations in genes ...
Jorge, M. S., Bugiani, Marianna
openaire   +4 more sources

Long‐term culture of skin biopsies: maintenance of fibroblast production and competency of reprogramming

FEBS Open Bio, EarlyView.
Skin biopsies taken from a patient with an ultra‐rare disorder as well as controls were cultured for up to 473 days. The chunks of skin were serially transferred to a new culture plate when confluent with fibroblasts. Different generations of fibroblasts were analyzed for cell and molecular properties, proliferation, and competence for reprogramming to
Sudiksha Rathan‐Kumar, Michael A. Ripperger, Grant M. Westlake, Kevin C. Ess   +3 more
wiley   +1 more source