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Chantall A.D. Curial on Muck Rack

Chantall A.D. Curial

As seen in: Wiley Online Library, Neurology
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Articles

A 21‐bp deletion in the complement regulator CD55 promotor region is associated with multifocal motor neuropathy and its disease course

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By Jeroen W. Bos, Henny G. Otten, Kevin Budding, Chantall A.D. Curial
| Wiley Online Library Verified
1 INTRODUCTION Multifocal motor neuropathy (MMN) is a rare, asymmetric, immune-mediated motor neuropathy that mostly affects the relatively young to middle-aged.
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SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis

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By Ewout J.N. Groen, Renske I Wadman, Chantall A.D. Curial, Jeroen W. Bos
| Neurology Verified
Abstract Objective To assess the association between copy number (CN) variation in the survival motor neuron (SMN) locus and multifocal motor neuropathy (MMN), progressive muscular atrophy (PMA), and primary lateral sclerosis (PLS) susceptibility and to determine the association of SMN1 and SMN2 CN with MMN, PMA, and PLS disease course.
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Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

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By Renske I Wadman, Marc Jansen, Chantall A.D. Curial, Ewout J.N. Groen
| Neurology Verified
Abstract Objective To investigate mutations in genes that are potential modifiers of spinal muscular atrophy (SMA) severity. Methods We performed a hypothesis-based search into the presence of variants in fused in sarcoma (FUS), transactive response DNA-binding protein 43 (TDP-43), plastin 3 (PLS3), and profilin 2 (PFN2) in a cohort of 153 patients with SMA types 1–4, including 19 families. Variants were detected with targeted next-generation sequencing and confirmed with Sanger sequencing.
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