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Your search keyword '"Roger Robert"' showing total 3 results
Start Over Author "Roger Robert" Journal clinical case reports
3 results on '"Roger Robert"'

1. Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18

Author

Dawn Brianna Lammert, David Miedema, Josiree Ochotorena, Nienke Dosa, Kalliopi Petropoulou, Roger Robert Lebel, and Ai Sakonju

Subjects
18q deletion, myelin, myelin basic protein, ring chromosome 18, Medicine, Medicine (General), R5-920
Abstract

Abstract Myelin basic protein (MBP) contributes to peripheral and central nervous system myelin. Developmental myelinopathies exist on a clinical spectrum, but MBP is not included on leukodystrophy or CMT gene panels. This ring chromosome 18 case presents serial MRI and EMG/NCS, shedding light on the early clinical course of the disorder.

Published
2019
Full Text
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2. Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18

Author

Kalliopi Petropoulou, Dawn Brianna Lammert, Nienke P. Dosa, Roger Robert Lebel, Josiree Ochotorena, Ai Sakonju, and David Miedema

Subjects
Peripheral dysmyelination, Pathology, medicine.medical_specialty, Ring chromosome, Central nervous system, lcsh:Medicine, Case Report, Case Reports, 030204 cardiovascular system & hematology, 03 medical and health sciences, Myelin, 0302 clinical medicine, medicine, lcsh:R5-920, 18q deletion, biology, business.industry, lcsh:R, Leukodystrophy, Clinical course, General Medicine, myelin basic protein, medicine.disease, Myelin basic protein, Peripheral, myelin, medicine.anatomical_structure, ring chromosome 18, 030220 oncology & carcinogenesis, biology.protein, lcsh:Medicine (General), business
Abstract

Myelin basic protein (MBP) contributes to peripheral and central nervous system myelin. Developmental myelinopathies exist on a clinical spectrum, but MBP is not included on leukodystrophy or CMT gene panels. This ring chromosome 18 case presents serial MRI and EMG/NCS, shedding light on the early clinical course of the disorder.

Published
2019
Full Text
View/download PDF

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