Search results: Sage Journals

Available accessReview articleFirst published September, 2023

Realizing the Potential of Gene Therapies for Rare and Ultra-Rare Inherited Diseases

Claire Booth, Alessandro Aiuti

Human Gene Therapy

Retricted accessOtherFirst published September, 2022

The AI-Led Engine Advancing Our Understanding of Rare and Ultra-Rare Diseases

Genetic Engineering & Biotechnology News

Retricted accessResearch articleFirst published October, 2019

A novel,hybrid,single- and multi-site clinical trial design for CLN3 disease,an ultra-rare lysosomal storage disorder

Heather R Adams, Sara Defendorf, Amy Vierhile [...]

Clinical Trials

Open accessResearch articleFirst published 2024

The use of art as a creative research method to understand psychosocial care needs for children with rare diseases

Niamh Buckle, Amy O’Neill, Alison Sweeney [...]

Therapeutic Advances in Rare Disease

Open accessReview articleFirst published 2021

Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases

Yoshitsugu Aoki, Matthew J.A. Wood

Journal of Neuromuscular Diseases

Open accessResearch articleFirst published 2023

Emerging roles and opportunities for rare disease patient advocacy groups

Amy M. Patterson, Megan O’Boyle, Grace E. VanNoy [...]

Therapeutic Advances in Rare Disease

Open accessResearch articleFirst published December 20, 2018

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

Nicholas Ah Mew, Avital Cnaan, Robert McCarter [...]

Translational Science of Rare Diseases

Open accessResearch articleFirst published March, 2025

Glycogenosis type XI,a rare association between muscle and skin manifestations - the contribution of proteomics for the understanding of the underlying myopathology

Andreas Hentschel, Emmanuelle Lacene, Guy Brochier [...]

Journal of Neuromuscular Diseases

Available accessResearch articleFirst published April, 2022

Addressing the Needs of Patients with Ultra-Rare Mutations One Patient at a Time: The n-Lorem Approach

Stanley T. Crooke

Nucleic Acid Therapeutics

Retricted accessResearch articleFirst published March, 2019

GABA Transaminase Deficiency With Survival Into Adulthood

Anaita U. Hegde, Purva K. Karnavat, R. Vyas [...]

Journal of Child Neurology

Available accessReview articleFirst published September, 2023

Realizing the Potential of Gene Therapies for Rare and Ultra-Rare Inherited Diseases

Claire Booth, Alessandro Aiuti

Human Gene Therapy

Retricted accessOtherFirst published September, 2022

The AI-Led Engine Advancing Our Understanding of Rare and Ultra-Rare Diseases

Genetic Engineering & Biotechnology News

Retricted accessResearch articleFirst published October, 2019

A novel,hybrid,single- and multi-site clinical trial design for CLN3 disease,an ultra-rare lysosomal storage disorder

Heather R Adams, Sara Defendorf, Amy Vierhile [...]

Clinical Trials

Open accessResearch articleFirst published 2024

The use of art as a creative research method to understand psychosocial care needs for children with rare diseases

Niamh Buckle, Amy O’Neill, Alison Sweeney [...]

Therapeutic Advances in Rare Disease

Open accessReview articleFirst published 2021

Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases

Yoshitsugu Aoki, Matthew J.A. Wood

Journal of Neuromuscular Diseases

Open accessResearch articleFirst published 2023

Emerging roles and opportunities for rare disease patient advocacy groups

Amy M. Patterson, Megan O’Boyle, Grace E. VanNoy [...]

Therapeutic Advances in Rare Disease

Open accessResearch articleFirst published December 20, 2018

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

Nicholas Ah Mew, Avital Cnaan, Robert McCarter [...]

Translational Science of Rare Diseases

Open accessResearch articleFirst published March, 2025

Glycogenosis type XI,a rare association between muscle and skin manifestations - the contribution of proteomics for the understanding of the underlying myopathology

Andreas Hentschel, Emmanuelle Lacene, Guy Brochier [...]

Journal of Neuromuscular Diseases

Available accessResearch articleFirst published April, 2022

Addressing the Needs of Patients with Ultra-Rare Mutations One Patient at a Time: The n-Lorem Approach

Stanley T. Crooke

Nucleic Acid Therapeutics

Retricted accessResearch articleFirst published March, 2019

GABA Transaminase Deficiency With Survival Into Adulthood

Anaita U. Hegde, Purva K. Karnavat, R. Vyas [...]

Journal of Child Neurology