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View article: Classic “PCH” genes are a rare cause of radiologic pontocerebellar hypoplasia
Classic “PCH” genes are a rare cause of radiologic pontocerebellar hypoplasia Open
Background: The term Pontocerebellar Hypoplasia (PCH) was initially used to designate a heterogeneous group of fetal-onset genetic neurodegenerative disorders. As a descriptive term, PCH refers to pons and cerebellum of reduced volume. In …
View article: Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i> Open
Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and…
View article: Identification of Enterovirus at Presentation Predicts Outcomes in Acute Flaccid Myelitis A Canadian Nationwide Study in Canada
Identification of Enterovirus at Presentation Predicts Outcomes in Acute Flaccid Myelitis A Canadian Nationwide Study in Canada Open
View article: Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy Open
View article: P.003 Health-related quality of life (HRQOL) for genetically determined leukoencephalopathy patients and their families
P.003 Health-related quality of life (HRQOL) for genetically determined leukoencephalopathy patients and their families Open
Background: Genetic leukoencephalopathies are a group of neurodegenerative diseases imposing a great burden on patients and families. There is no previous systematic study looking at the impacts of these diseases. Methods: HRQOL was assess…