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van Engelen, Baziel
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1

PABPN1 loss-of-function causes APA-shift in oculopharyngeal..:

Shademan, Milad ; Mei, Hailiang ; van Engelen, Baziel...
Human Genetics and Genomics Advances.  5 (2024)  2 - p. 100269 , 2024
Link: https://doi.org/10.1016/..
 
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2

An up-to-date myopathologic characterisation of facioscapul..:

Hubregtse, Lisanne ; Bouman, Karlijn ; Lama, Chéryane...
Neuromuscular Disorders.  36 (2024)  - p. 6-15 , 2024
Link: https://doi.org/10.1016/..
 
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3

Improving Heckmatt muscle ultrasound grading scale through ..:

Wijntjes, Juerd ; Saris, Christiaan ; Doorduin, Jonne...
Neuromuscular Disorders.  , 2024
Link: https://doi.org/10.1016/..
 
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4

Safety and efficacy of losmapimod in facioscapulohumeral mu..:

Tawil, Rabi ; Wagner, Kathryn R ; Hamel, Johanna I...
The Lancet Neurology.  23 (2024)  5 - p. 477-486 , 2024
Link: https://doi.org/10.1016/..
 
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5

267th ENMC International workshop: psychological interventi..:

Pater, Ronne ; Garmendia, Joana ; Gallais, Benjamin...
Neuromuscular Disorders.  33 (2023)  7 - p. 562-569 , 2023
Link: https://doi.org/10.1016/..
 
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6

Autosomal dominant in cis D4Z4 repeat array duplication all..:

Lemmers, Richard J L F ; Butterfield, Russell ; van der Vliet, Patrick J...
Brain.  , 2023
Link: https://doi.org/10.1093/..
 
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7

An Open-Label Study of Losmapimod to Evaluate the Safety, T..:

Kools, Joost ; Voermans, Nicol ; Mul, Karlien...
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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8

A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 48..:

Tawil, Rabi ; Statland, Jeffrey ; Wang, Leo...
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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9

Reachable Workspace to Evaluate Efficacy of Losmapimod in S..:

Mellion, Michelle ; Han, Jay ; Shoskes, Jennifer...
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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10

Whole Body MRI Quantitative muscle analysis to evaluate Eff..:

Mellion, Michelle ; Tawil, Rabi ; Statland, Jeffrey...
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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11

Neurological features of Noonan syndrome and related RASopa..:

De Ridder, Willem ; van Engelen, Baziel ; van Alfen, Nens
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1801-1807 , 2022
Link: https://doi.org/10.1002/..
 
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12

Quantitative muscle analysis in FSHD using Whole-Body MRI: ..:

Wildholm, Per ; Karlsson, Markus ; Dahlqvist-Leinhard, Olof...
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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13

Behavioural Impairment and Frontotemporal Dementia in Oculo..:

Tankink, Maurits ; Horlings, Corinne G.C. ; Voermans, Nicol...
Journal of Neuromuscular Diseases.  9 (2022)  1 - p. 129-135 , 2022
Link: https://doi.org/10.3233/..
 
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14

Assessment of PABPN1 nuclear inclusions on a large cohort o..:

Roth, Fanny ; Dhiab, Jamila ; Boulinguiez, Alexis...
Acta Neuropathologica.  144 (2022)  6 - p. 1157-1170 , 2022
Link: https://doi.org/10.1007/..
 
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15

Integrin α7 Mutations Are Associated With Adult‐Onset Cardi..:

Bugiardini, Enrico ; Nunes, Andreia M. ; Oliveira‐Santos, Ariany...
Journal of the American Heart Association.  11 (2022)  23 - p. , 2022
Link: https://doi.org/10.1161/..
 
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