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Clinical and genetic features of patients suffering from CMT4J.

Journal article

Beloribi-Djefaflia S. et al, (2023), J Neurol

Titin copy number variations associated with dominant inherited phenotypes.

Journal article

Perrin A. et al, (2023), J Med Genet

First regulatory qualification of a digital primary endpoint to measure treatment efficacy in DMD.

Journal article

Servais L. et al, (2023), Nat Med, 29, 2391 - 2392

Spinal Muscular Atrophy.

Journal article

Oskoui M. and Servais L., (2023), Continuum (Minneap Minn), 29, 1564 - 1584

Tamoxifen in children with Duchenne muscular dystrophy.

Journal article

Servais L., (2023), Lancet Neurol, 22, 872 - 873

Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.

Journal article

Proud CM. et al, (2023), Ann Clin Transl Neurol

Newborn screening for spinal muscular atrophy - what have we learned?

Journal article

De Siqueira Carvalho AA. et al, (2023), Expert Rev Neurother, 1 - 8

Universal newborn screening for spinal muscular atrophy in Ukraine.

Journal article

Olkhovych N. et al, (2023), Lancet, 402, 288 - 289

Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.

Journal article

Aragon-Gawinska K. et al, (2023), Genes (Basel), 14

Novel Therapeutic Approaches in Inherited Neuropathies: A Systematic Review.

Journal article

Hustinx M. et al, (2023), Pharmaceutics, 15

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England.

Conference paper

Weidlich D. et al, (2023), Neurol Ther

TOR1AIP1-Associated Nuclear Envelopathies.

Journal article

Mackels L. et al, (2023), Int J Mol Sci, 24

Quantitative measures of motor development in Angelman syndrome.

Journal article

Duis J. et al, (2023), Am J Med Genet A

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