Mucolipidosis type IV: An update-Reference-Cited by-同舟云学术

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Mucolipidosis type IV: An update

Published:2011-11 Issue:3 Volume:104 Page:206-213
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Wakabayashi Kazuyo,Gustafson Ann Marie,Sidransky Ellen,Goldin Ehud

Funder

Division of Intramural Research of the National Human Genome Research Institute

National Institutes of Health

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference66 articles.

1. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel;Sun;Hum. Mol. Genet.,2000

2. The neurogenetics of mucolipidosis type IV;Altarescu;Neurology,2002

3. Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway;LaPlante;FEBS Lett.,2002

4. Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel;Raychowdhury;Hum. Mol. Genet.,2004

5. Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV;Venugopal;Am. J. Hum. Genet.,2007

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1. Mucolipidosis type IV in the practice of pediatricians and medical geneticists;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2024-07-13

2. Multimodal Imaging in Mucolipidosis Type IV: Siblings With Novel Genetic Variant;Cornea;2024-06-24

3. A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2024-03-27

4. Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1;American Journal of Ophthalmology;2024-02

5. “TRP channelopathies”: TRP channel dysfunction in hereditary diseases;TRP Channels as Therapeutic Targets;2024

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