Cerebral hypomyelination associated with biallelic variants of FIG4 (original) (raw)
Congenital CNS Hypomyelination in the Fig4 Null Mouse Is Rescued by Neuronal Expression of the PI(3,5)P2 Phosphatase Fig4
V. Giger-Mateeva, Jesse Winters, Guy M Lenk, Roman J Giger
Journal of Neuroscience, 2011
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POLR3A and POLR3B Mutations in Unclassified Hypomyelination
Kether Guerrero
Neuropediatrics, 2015
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Abnormal myelination in a patient with deletion 14q11.2q13.1
Karl Lovblad
Pediatric Neurology, 2000
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Congenital hypomyelination due to myelin protein zero Q215X mutation
Emilia Bellone
Annals of Neurology, 1999
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A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia
Shin Nabatame
American Journal of Medical Genetics Part A, 2013
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Dominant inheritance of cerebral gigantism
Jean Soto
Journal of Pediatrics, 1977
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Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
Carlos Ferreira
American Journal of Medical Genetics Part A, 2014
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Clinical Phenotypes of Different (P) Mutations May Include Charcot?Marie?Tooth Type 1B, Dejerine?Sottas, and Congenital Hypomyelination
D. Witt
Neuron, 1996
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Severe Hypomyelination of the Murine CNS in the Absence of Myelin-Associated Glycoprotein and Fyn Tyrosine Kinase
Melitta Schachner
The Journal of Neuroscience
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A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A
ilan Shelef
European journal of human genetics : EJHG, 2014
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Genetic malformations of the human frontal lobe
Chris Walsh Children's
Epilepsia, 2010
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TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype
Gordon Gowans
Molecular Syndromology, 2010
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Diffuse hypomyelination is not obligate for POLR3-related disorders
Kether Guerrero
Neurology, 2016
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Spinocerebellar degeneration and cerebral hypomyelination in a family
Leo Wolansky
American Journal of Medical Genetics, 1995
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Clinical Spectrum of SIX3-Associated Mutations In Holoprosencephaly: Correlation Between Genotype, Phenotype, and Function
P. Njolstad
British Medical …, 2009
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TUBB4A de novo mutations cause isolated hypomyelination
Guy Helman, Geneviève Bernard
Neurology, 2014
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Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
Francesca Radio
American Journal of Neuroradiology, 2022
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Reduced Cerebral White Matter Integrity Assessed by DTI in Cognitively Normal H63D-HFE Polymorphism Carriers
Mark Meadowcroft
Journal of Neuroimaging, 2017
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Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
Fanny Sauvestre
Acta Neuropathologica Communications, 2020
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Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
Marina Pedemonte
Nature Genetics, 2006
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New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum
Marjo Van Der Knaap
AJNR. American journal of neuroradiology, 2002
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Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant
Fabiola Cartes
Clinical Case Reports, 2021
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Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
tijana radovic
Orphanet Journal of Rare Diseases
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