Results 41 to 50 of about 9,985 (202)

Melatonin Ameliorates Axonal Hypomyelination of Periventricular White Matter by Transforming A1 to A2 Astrocyte via JAK2/STAT3 Pathway in Septic Neonatal Rats

Journal of Inflammation Research, 2021
Shuqi Jiang,1,* Huifang Wang,1,2,* Qiuping Zhou,1,3 Qian Li,1,2 Nan Liu,1,3 Zhenggong Li,1 Chunbo Chen,1 Yiyu Deng1,2 1Department of Critical Care Medicine, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou,
Jiang S, Wang H, Zhou Q, Li Q, Liu N, Li Z, Chen C, Deng Y   +7 more
doaj  

NKX6-2 Disease in Two Unrelated Patients with Early-Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy

Brain Disorders, 2023
Recently, biallelic variants in NKX6-2 have been reported to cause central nervous system hypomyelination. Clinical presentation of previously reported patients included two distinct phenotypes: a neonatal-onset with severe presentation, and a milder ...
Shaymaa Shurrab, Dawn Cordeiro, Saadet Mercimek-Andrews, Andrew Y․ Shuen   +3 more
doaj   +1 more source

Hypomyelinating Leukoencephalopathy

Sultan Qaboos University Medical Journal, 2013
NA
openaire   +3 more sources

The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India

Annals of Indian Academy of Neurology, 2016
Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India ...
Sheffali Gulati, Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, Neerja Gupta, Madhulika Kabra   +5 more
doaj   +1 more source

TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

eLife, 2020
Mutations in TUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring variant p.Asp249Asn (D249N).
Sunetra Sase, Akshata A Almad, C Alexander Boecker, Pedro Guedes-Dias, Jian J Li, Asako Takanohashi, Akshilkumar Patel, Tara McCaffrey, Heta Patel, Divya Sirdeshpande, Julian Curiel, Judy Shih-Hwa Liu, Quasar Padiath, Erika LF Holzbaur, Steven S Scherer, Adeline Vanderver   +15 more
doaj   +1 more source

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

, 2006
We describe a new autosomal recessive white matter disorder (’hypomyelination and congenital cataract’) characterized by hypomyelination of the central and peripheral nervous system, progressive neurological impairment and congenital cataract.
BRUNO, CLAUDIO, SCHENONE, ANGELO, M. S. VAN DER KNAAP, L. BORDO, F. SOTGIA, E. GAZZERRO, S. STRINGARA, S. GIANOTTI, P. TORTORI DONATI, F. ZARA F, G. UZIEL, R. BIANCHERI, A. ROSSI, M. PEDEMONTE, S. ASSERETO, X. B. WANG, MINETTI, CARLO, M. P. LISANTI   +17 more
core   +3 more sources

Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A

Stem Cell Research, 2023
Mutations in tubulin alpha 4a (TUBB4A) result in a spectrum of leukodystrophies, including Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC), resulting from a recurring mutation p.Asp249Asn (TUBB4AD249N).
Akshata A Almad, Luis Garcia, Asako Takanohashi, Alyssa Gagne, Wenli Yang, Jean Ann McGuire, Deborah French, Adeline Vanderver   +7 more
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Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia

Molecular Genetics & Genomic Medicine, 2019
Introduction RNA polymerase III (Pol III)‐related leukodystrophies are a group of autosomal recessive neurodegenerative disorders caused by mutations in POLR3A and POLR3B.
Ichraf Kraoua, Adnane Karkar, Cyrine Drissi, Hanene Benrhouma, Hedia Klaa, Simon Samaan, Florence Renaldo, Monique Elmaleh, Mohamed Ben Hamouda, Sonia Abdelhak, Odile Boespflug‐Tanguy, Ilfghem Ben Youssef‐Turki, Imen Dorboz   +12 more
doaj   +1 more source

Hypomyelinating disorders: An MRI approach

Neurobiology of Disease, 2016
In recent years, the concept of hypomyelinating disorders has been proposed as a group of disorders with varying systemic manifestations that are identified by MR findings of absence or near absence of the T2 hypointensity that develops in white matter as a result of myelination.
A. James Barkovich, Sean Deon
openaire   +3 more sources

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

Human Genome Variation, 2022
TUBB4A gene variants cause dystonia type 4 and hypomyelination with atrophy of the basal ganglia and cerebellum. We report the case of a child with delayed motor development, intellectual disability, and dystonia.
Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Takanori Yamagata, Hitoshi Osaka   +7 more
doaj   +1 more source