A. Shatillo

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Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2021, medRxiv.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

G. Bassez, J. Puymirat, H. Lochmüller, 2018, Orphanet Journal of Rare Diseases.

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

A. Ferlini, M. Neri, D. Vlodavets, 2020, Neurology Genetics.

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

M. Schroth, D. Zafeiriou, Y. Chien, 2021, Neuromuscular Disorders.

The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Domenica Taruscio, Emma Heslop, Jes Rahbek, 2013, Human mutation.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Christophe Béroud, Hanns Lochmüller, Petr Brabec, 2015, Human mutation.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2022, Nature Communications.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

K. Bushby, K. Flanigan, C. Béroud, 2017, Journal of neuromuscular diseases.

The Combination of Chromosomal Reorganization and Inherited Point Mutation Has Led to the Development of a Rare Clinical Phenotype in a Patient with Disorder of Sex Differentiation and Neuromuscular Pathology

N. Zelinska, L. Livshits, A. Shatillo, 2022, Cytology and Genetics.

This Work Is Licensed under a Creative Commons Attribution 4.0 International License the Treat-nmd Dmd Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

K. Bushby, K. Flanigan, C. Béroud, 2022 .