Results 81 to 90 of about 9,985 (202)

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case

, 2005
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome is a new neurodegenerative entity, which was first described by van der Knaap in 2002 in 7 patients aged from 2 months to 2 years.
Prayer, D., Van Der Knaap, M. S., Baric, I., Stoeckler-Ipsiroglu, Sylvia, Mercimek-Mahmutoglu, S.   +4 more
core   +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.
Kloth, K, Rahbeeni, Z, Kruer, MC, AlShammari, M, Almass, R, Alsagob, M, Al-Shahrani, SA, Colak, D, Hamad, MH, Imtiaz, F, Qari, A, Wood, NW, Kaya, N, Chirita-Emandi, A, AlSayed, MD, Maroofian, R, Bierhals, T, Chelban, V, Bakhtiari, S, Haridy, NA, Houlden, H, AlQuait, L, Beiraghi Toosi, M, Groppa, S, Huma, R, Davagnanam, I, Johannsen, J, AlZaidan, H, Efthymiou, S, Mankad, K, Ramzan, K, Alorainy, IA, Ghayoor Karimiani, E, Salih, MA, Vandrovcova, J, Malintan, NT, Almutairi, FB, Puiu, M   +37 more
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Clinical and magnetic resonance imaging findings in a French bulldog puppy with genetically confirmed congenital hypothyroidism

Journal of Veterinary Internal Medicine
A 7‐month‐old male French bulldog was referred for abnormal mentation and gait. Physical examination revealed a dome shaped calvarium and persistent bregmatic fontanelle.
Katia Sánchez González, Harry Warwick, Marius Conradie, Neringa Alisauskaite   +3 more
doaj   +1 more source

Hypomyelinating leukodystrophies in adults [PDF]

European Journal of Neurology, 2021
openaire   +3 more sources

Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain

, 2020
With interest we read the report by Patel et al.1 concerning a patient with Jacobsen syndrome due to an 11q23-11q24 deletion and MRI evidence for leukodystrophy with improvement at a follow-up, substantiated by FLAIR images.
Wolf, Nicole I., Van Der Knaap, Marjo S.
core   +1 more source

Adenosine Actions on Oligodendroglia and Myelination in Autism Spectrum Disorder

Frontiers in Cellular Neuroscience, 2018
Autism spectrum disorder (ASD) is the most commonly diagnosed neurodevelopmental disorder. Independent of neuronal dysfunction, ASD and its associated comorbidities have been linked to hypomyelination and oligodendroglial dysfunction.
Hai-Ying Shen, Hai-Ying Shen, Nanxin Huang, Jesica Reemmer, Lan Xiao   +4 more
doaj   +1 more source

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

PLoS Genetics, 2020
Hypomyelination, a neurological condition characterized by decreased production of myelin sheets by glial cells, often has no known etiology. Elucidating the genetic causes of hypomyelination provides a better understanding of myelination, as well as ...
Bernardo Blanco-Sánchez, Aurélie Clément, Sara J Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G Stratton, Undiagnosed Diseases Network, David M Koeller, Thomas O Metz, Philip Washbourne, Monte Westerfield   +22 more
doaj   +1 more source

Hypomyelination and Oligodendroglial Alterations in a Mouse Model of Autism Spectrum Disorder

Frontiers in Cellular Neuroscience, 2019
Autism spectrum disorders (ASDs) are neuropsychiatric diseases characterized by impaired social interaction, communication deficits, and repetitive and stereotyped behaviors.
Mariana Graciarena, Mariana Graciarena, Mariana Graciarena, Araceli Seiffe, Araceli Seiffe, Brahim Nait-Oumesmar, Amaicha M. Depino, Amaicha M. Depino   +7 more
doaj   +1 more source

ulk4 deficiency leads to hypomyelination in mice

, 2017
Brain nerve fibers are insulated by myelin which is produced by oligodendrocytes. Defects in myelination are increasingly recognized as a common pathology underlying neuropsychiatric and neurodevelopmental disorders, which are associated with deletions ...
Min Liu, O\u27Brien, Timothy, O'Brien, Timothy, Una Fitzgerald, Sanbing Shen, Liu, Min, Qian, Xiaohong, Fitzgerald, Una, Guan, Zhenlong, Shen, Sanbing, Zhenlong Guan, Timothy O'Brien, Xiaohong Qian, Dockery, Peter, Ping Xu, Xu, Ping, Peter Dockery   +16 more
core   +1 more source

Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy

, 2022
Hypomyelinating leukodystrophies (HLDs) are a rare group of heterogeneously genetic disorders characterized by persistent deficit of myelin observed on magnetic resonance imaging (MRI).
Junyu Wang, Thomas Kubisiak, Jingmin Wang, Yuwu Jiang, Ye Wu, Yu Zhang, Yiming Hou, Huifang Yan, Jiangxi Xiao, Shuyan Yang, Ting Zhang, Margit Burmeister, Math P. Cuajungco, Kai Gao, Ruoyu Duan, Saima Ali, Adrian Escobar, Qiang Wang   +17 more
core   +1 more source