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Molecular Genetics and Metabolism
|
February 26, 2022
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis
Rory J Tinker, Marni J Falk, Amy Goldstein, et al.
Developmental Medicine and Child Neurology
|
August 4, 2021
Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration
Jenny L Wilson, Allison Gregory, Manju A Kurian, et al.
Developmental Medicine and Child Neurology
|
April 30, 2026
Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy
Stacy V Cusack, Allan M Glanzman, Francesco Gavazzi, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
June 4, 2019
Validation of a symptom-based questionnaire for pediatric CNS demyelinating diseases
Amy T Waldman, Anusha K Yeshokumar, Amy Lavery, et al.
Neuropediatrics
|
January 14, 2021
Hepatic Involvement in Aicardi-Goutières Syndrome
Francesco Gavazzi, Zachary M Cross, Sarah Woidill, et al.
Neurogenetics
|
February 2, 2022
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
Anthony Cheung, Catherine Argyriou, Christine Yergeau, et al.
Current Problems in Pediatric and Adolescent Health Care
|
December 5, 2022
Pulmonological issues
Geovanny Perez, Lisa Young, Richard Kravitz, et al.
Journal of Child Neurology
|
September 28, 2019
Developmental Outcomes of Aicardi Goutières Syndrome
Laura Adang, Francesco Gavazzi, Micaela De Simone, et al.
Pediatric Neurology
|
December 11, 2020
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features
Cara Piccoli, Nowa Bronner, Francesco Gavazzi, et al.
Pediatric Neurology
|
October 8, 2021
Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy
Francesco Gavazzi, Laura Adang, Amy Waldman, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 35) with videos related to
Sort By:
Page
of 4
Molecular Genetics and Metabolism
|
February 26, 2022
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis
Rory J Tinker, Marni J Falk, Amy Goldstein, et al.
Developmental Medicine and Child Neurology
|
August 4, 2021
Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration
Jenny L Wilson, Allison Gregory, Manju A Kurian, et al.
Developmental Medicine and Child Neurology
|
April 30, 2026
Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy
Stacy V Cusack, Allan M Glanzman, Francesco Gavazzi, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
June 4, 2019
Validation of a symptom-based questionnaire for pediatric CNS demyelinating diseases
Amy T Waldman, Anusha K Yeshokumar, Amy Lavery, et al.
Neuropediatrics
|
January 14, 2021
Hepatic Involvement in Aicardi-Goutières Syndrome
Francesco Gavazzi, Zachary M Cross, Sarah Woidill, et al.
Neurogenetics
|
February 2, 2022
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
Anthony Cheung, Catherine Argyriou, Christine Yergeau, et al.
Current Problems in Pediatric and Adolescent Health Care
|
December 5, 2022
Pulmonological issues
Geovanny Perez, Lisa Young, Richard Kravitz, et al.
Journal of Child Neurology
|
September 28, 2019
Developmental Outcomes of Aicardi Goutières Syndrome
Laura Adang, Francesco Gavazzi, Micaela De Simone, et al.
Pediatric Neurology
|
December 11, 2020
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features
Cara Piccoli, Nowa Bronner, Francesco Gavazzi, et al.
Pediatric Neurology
|
October 8, 2021
Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy
Francesco Gavazzi, Laura Adang, Amy Waldman, et al.
Page
of 4