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

Catherine L. Bladen, David Salgado, Soledad Monges, +56

Human Mutation

Dmd MutationsTrial PlanningEngineeringMendelian DisorderGenetic Disorder +10

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

Zaïda Koeks, Catherine L. Bladen, David Salgado, +59

Journal of Neuromuscular Diseases

Loss-of-function mutations in the<i>ATP13A2/</i>PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Alejandro Estrada‐Cuzcano, Shaun Martin, Teodora Chamova, +19

Brain

Progressive SpasticityNeurodegenerative DiseasesMendelian DisorderMitochondrial DysfunctionGenetic Disorder +9

Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

David Adams, Michael Polydefkis, Alejandra González‐Duarte, +437

The Lancet Neurology

Alzheimer's DiseaseOpen-label Extension StudyMedicineHereditary Transthyretin-mediated AmyloidosisNeurology +3

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida‐Souza, +11

The American Journal of Human Genetics

KinesiologyMendelian DisorderGenetic DisorderGeneticsDegenerative Disease +3

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

Ana Töpf, Katherine Johnson, Adam Bates, +96

Genetics in Medicine

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

Catherine L. Bladen, Karen Rafferty, Volker Straub, +62

Human Mutation

Rare DiseasesDmd RegistriesDuchenne Muscular DystrophyPrecision MedicineClinical Trials +12

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Catherine L. Bladen, Rachel Thompson, J. Jackson, +58

Journal of Neurology

Spine CarePrimary CareHealth PolicyMedicineInternational Health +7

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Velina Guergueltcheva, Dimitar N. Azmanov, Dora Angelicheva, +15

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsDegenerative DiseaseNeuroscience +5

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Alexander M. Rossor, Emily C. Oates, Hannah K. Salter, +25

Brain

GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationKinesiology +14