Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Dangouloff, Tamara; BOEMER, François; DIDEBERG, Vinciane; CABERG, Jean-Hubert; Servais, Laurent

doi:10.1212/WNL.0000000000009907

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Letter to the editor (Scientific journals)

Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Dangouloff, Tamara; BOEMER, François; DIDEBERG, Vinciane et al.

2020 • In Neurology

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/249877

DOI
10.1212/WNL.0000000000009907

PubMed
32690780

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Keywords :

Newborn screening; Spinal muscular atrophy; SMN2 copy

Disciplines :

Neurology

Author, co-author :

Dangouloff, Tamara ; Université de Liège - ULiège > Département des sciences cliniques > Neuropédiatrie

BOEMER, François ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire Biochimie Génétique

DIDEBERG, Vinciane ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire génétique moléculaire

CABERG, Jean-Hubert ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Unité de laboratoire - neurogénétique

Servais, Laurent ; Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie

Language :

English

Title :

Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Publication date :

2020

Journal title :

Neurology

ISSN :

0028-3878

eISSN :

1526-632X

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 03 August 2020

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Bibliography

Schorling DC, Becker J, Pechmann A, et al. Discrepancy in redetermination of SMN2 copy numbers in children with SMA. Neurology 2019; 93: 267-269.
Glascock J, Lenz M, Hobby K, Jarecki J. Cure SMA and our patient community celebrate the first approved drug for SMA. Gene Ther 2017; 24: 498-500.
Boemer F, Caberg JH, Dideberg V, et al. Newborn screening for SMA in southern Belgium. Neuromuscul Disord 2019; 29: 343-349.