Results 91 to 100 of about 9,985 (202)

Reprint of “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 ...
A. James Barkovich, Sean Deon
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Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.

PLoS ONE, 2012
"Hypomyelination and Congenital Cataract", HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination.
Elisabetta Gazzerro, Simona Baldassari, Caterina Giacomini, Veronica Musante, Floriana Fruscione, Veronica La Padula, Roberta Biancheri, Sonia Scarfì, Valeria Prada, Federica Sotgia, Ian D Duncan, Federico Zara, Hauke B Werner, Michael P Lisanti, Lucilla Nobbio, Anna Corradi, Carlo Minetti   +16 more
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Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy

Molecular Genetics & Genomic Medicine
Background Trichothiodystrophy (TTD) is caused by homozygous or compound heterozygous variants in genes associated with DNA repair. The ERCC2 gene encoded a protein, XPD, that is a subunit of the general transcription factor TFIIH and important in both ...
Ali Reza Tavasoli, Arastoo Kaki, Maedeh Ganji, Seyyed Mohammad Kahani, Foozhan Radmehr, Pouria Mohammadi, Morteza Heidari, Mahmoud Reza Ashrafi, Kara S. Lewis   +8 more
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Generation of three induced pluripotent stem cell lines from individuals with late infantile TUBB4A-associated leukodystrophy caused by a c.1172G > A (p.R391H) de novo mutation in TUBB4A

Stem Cell Research
A de novo variant, c.1172G > A (p. Arg391His) in TUBB4A causes late infantile TUBB4A-associated leukodystrophy with MRI features of isolated hypomyelination. To model and understand the disease pathology, we generated three induced pluripotent stem cell (
Zhongqi Hou, Alyssa Gagne, Jingli Cai, Jean Ann Maguire, Giulia Pavani, Wenli Yang, Asako Takanohashi, Adeline Vanderver, Sunetra Sase   +8 more
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Investigating Hypomyelination And Axon Guidance Defects In Tuberous Sclerosis Complex.

, 2010
Investigating Hypomyelination And Axon Guidance Defects In Tuberous Sclerosis Complex. Hasani Baharanyi, Duyu Nie, and Mustafa Sahin, Department of Neurology, Childrens Hospital of Boston, Harvard Medical School, Boston, MA.
Baharanyi, Hasani
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A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract

, 2008
Hypomyelination and congenital cataract is a recently reported autosomal recessive white matter disorder characterized by hypomyelination of the central and peripheral nervous systems, progressive neurological impairment and congenital cataract and ...
Aslıhan Tolun, Tolun, Aslihan, Sibel Aylin Ugur, Ugur, SİBEL AYLİN   +3 more
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Hypomyelination with atrophy of the basal ganglia and cerebellum: Follow-up and pathology

, 2007
BACKGROUND AND OBJECTIVE: Hypomyelination with atrophy of the basal ganglia and cerebellum is a recently defined disorder. Only a few patients have been described.
Paetau, A., Van Der Knaap, M. S., Grattan-Smith, P., Linnankivi, T., van der Knaap, Marjo S., Haginoya, K., Brockmann, K., Köhler, W., Dinopoulos, A., Schiffmann, R., Henneke, M., Schiffmann, Raphael, Blaser, S., Henneke, Marco, Wakusawa, K., Feigenbaum, A., Brockmann, Knut, Paetau, Anders   +17 more
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Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

, 2006
We identified four unrelated patients (three female, one male) aged 20 to 30 years with hypomyelination, pituitary hypogonadotropic hypogonadism, and hypodontia.
Schiffmann, R., Tsokos, M., Van Der Knaap, M. S., Zirzow, G. C., Wong, K., Asab, M. Abu, Timmons, M., Kaneski, C. R., Heiss, J. D., Seminara, S. B., Vanier, M. T.   +10 more
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ERCC6 Dysfunction Presenting as Progressive Neurological Decline With Brain Hypomyelination

, 2014
Mutations in ERCC6 are associated with growth failure, intellectual disability, neurological dysfunction and deterioration, premature aging, and photosensitivity. We describe siblings with biallelic ERCC6 mutations (NM_000124.2:c.
Vanderver, A, Boerkoel, CF, Li, XL, Herman, GE, Tifft, CJ, Simeonov, DR, Garner, S, Gahl, WA, Shehata, L, Wolfe, L, Jaspers, Koos, Raams, Anja, Huang, Yadi, He, M, Thurm, A   +14 more
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A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination

, 2017
Objective: Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its relevance to human white matter disease.
Wolf, Nicole I., Lopez-Anido, Camila, Svaren, John, Duong, Phu, Radcliff, Abigail B., Duncan, Ian D., Bugiani, Marianna, August, Benjamin K., van der Knaap, Marjo S., Moran, John J.   +9 more
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