Publications

Networking & Collaboration

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

Author : Hanns Lochmüller
Journal : European Journal of Human Genetics,
Published : March, 2018

DOI:10.1038/s41431-018-0115-5

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Author : Bauché S et al
Journal : American Journal of Human Genetics, volume 99, pages 1-9
Published : September, 2016

DOI:10.1016/j.ajhg.2016.06.033

Congenital myasthenic syndrome

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Author : Belaya K et al
Journal : Brain, volume 138, issue 9, pages 2493 - 2504
Published : July, 2015

DOI:10.1093/brain/awv185

VCP-related neurological disease

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

Author : Figuero-Bonaparte S et al
Journal : Journal of Neurology, Neurosurgery and Psychiatry, volume 87, issue 6, pages 680-681
Published : June, 2015

DOI:10.1136/jnnp-2015-310362

AARS-related neuropathy

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

Author : Bansagi B et al
Journal : Journal of Neurology,
Published : June, 2015

DOI:10.1007/s00415-015-7778-4

Collagen VI

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Author : Zech M et al
Journal : American Journal of Human Genetics, volume 96, issue 6, pages 883-893
Published : May, 2015

DOI:10.1016/j.ajhg.2015.04.010

TACT

TREAT-NMD Advisory Committee for Therapeutics (TACT)

Author : Heslop E et al
Journal : Orphanet Journal of Rare Diseases, volume 10, issue 49,
Published : April, 2015

DOI:10.1186/s13023-015-0258-1

Registries

The TREAT-NMD DMD Global database: Analysis of More Than 7000 Duchenne Muscular Dystrophy Mutations

Author : Bladen C et al.
Journal : Human Mutation, volume 36, issue 4, pages 395-402
Published : April, 2015

DOI:10.1002/humu.22758

TRPV4 related neuropathies

Phenotypic variability of TRPV4 related neuropathies

Author : Evangelista E et al
Journal : Neuromuscular Disorders, volume 25, issue 6, pages 516-521
Published : March, 2015

DOI:10.1016/j.nmd.2015.03.007

SMA Registries

Mapping the differences in care for 5000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Author : Bladen C.L. et al
Journal : Journal of Neurology, volume 261, issue 1, pages 152-163
Published : January, 2014

DOI:10.1007/s00415-013-7154-1

DMD Registries

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design and utilisation by industry and academia

Author : Bladen CL et al
Journal : Human Mutation 2013, volume 34, issue 11, pages 1449-1457
Published : October, 2013

DOI:10.1002/humu.22390

Care & Trial Site Registry - CTSR

The TREAT-NMD Care and Trial Site Registry: an online registry to facilitate clinical research for neuromuscular diseases

Author : Rodger S et al
Journal : Orphanet Journal of Rare Diseases, volume 8, pages 171
Published : October, 2013

DOI:10.1186/1750-1172-8-171