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Molecular Genetics and Metabolism
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February 5, 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement
Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, et al.
Pediatric Neurology
|
October 23, 2025
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective
Francesco Gavazzi, Virali Patel, Jacqueline A Erler, et al.
Molecular Genetics and Metabolism
|
September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world data
Isabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Molecular Genetics and Metabolism
|
July 5, 2022
Hematologic abnormalities in Aicardi Goutières Syndrome
Laura A Adang, Francesco Gavazzi, Russell D'Aiello, et al.
Molecular Therapy. Nucleic Acids
|
April 2, 2025
Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations
Lucas Tricoli, Sunetra Sase, Julia L Hacker, et al.
Pediatric Neurology
|
May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45
Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
Molecular Genetics and Metabolism
|
May 23, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)
Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, et al.
Neurology
|
June 10, 2024
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
Francesco Gavazzi, Ylenia Vaia, Sarah Woidill, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 30, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
Lucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, et al.
Molecular Genetics and Metabolism
|
February 11, 2026
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)
Anjana Sevagamoorthy, Francesco Gavazzi, Zarrin Tashnim, et al.
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of 5
Search research articles
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Showing results (31-40 of 49) with videos related to
Sort By:
Page
of 5
Molecular Genetics and Metabolism
|
February 5, 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement
Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, et al.
Pediatric Neurology
|
October 23, 2025
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective
Francesco Gavazzi, Virali Patel, Jacqueline A Erler, et al.
Molecular Genetics and Metabolism
|
September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world data
Isabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Molecular Genetics and Metabolism
|
July 5, 2022
Hematologic abnormalities in Aicardi Goutières Syndrome
Laura A Adang, Francesco Gavazzi, Russell D'Aiello, et al.
Molecular Therapy. Nucleic Acids
|
April 2, 2025
Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations
Lucas Tricoli, Sunetra Sase, Julia L Hacker, et al.
Pediatric Neurology
|
May 11, 2020
Phenotypic and Imaging Spectrum Associated With WDR45
Laura A Adang, Amy Pizzino, Alka Malhotra, et al.
Molecular Genetics and Metabolism
|
May 23, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)
Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, et al.
Neurology
|
June 10, 2024
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
Francesco Gavazzi, Ylenia Vaia, Sarah Woidill, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 30, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
Lucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, et al.
Molecular Genetics and Metabolism
|
February 11, 2026
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)
Anjana Sevagamoorthy, Francesco Gavazzi, Zarrin Tashnim, et al.
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of 5