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Lochmüller, H.
631  results:
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1

Predictors of Loss of Ambulation in Duchenne Muscular Dystr..:

Landfeldt, E. ; Alemán, A. ; Abner, S....
Journal of Neuromuscular Diseases.  11 (2024)  3 - p. 579-612 , 2024
Link: https://doi.org/10.3233/..
 
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Factors Associated with Respiratory Health and Function in ..:

Landfeldt, E. ; Aleman, A. ; Abner, S....
Journal of Neuromuscular Diseases.  11 (2024)  1 - p. 25-57 , 2024
Link: https://doi.org/10.3233/..
 
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3

P76 The Canadian neuromuscular disease registry: a national..:

Sobey, M. ; Hodgkinson, V. ; Westbury, G....
Neuromuscular Disorders.  33 (2023)  - p. S135-S136 , 2023
Link: https://doi.org/10.1016/..
 
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4

P192 The open-access treatabolome platform enhances the vis..:

Atalaia, A. ; Thompson, R. ; Matalonga, L....
Neuromuscular Disorders.  33 (2023)  - p. S142 , 2023
Link: https://doi.org/10.1016/..
 
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5

P62 SIMPATHIC: accelerating drug repurposing for rare neuro..:

't Hoen, P. ; Benkemoun, L. ; Prigione, A....
Neuromuscular Disorders.  33 (2023)  - p. S74 , 2023
Link: https://doi.org/10.1016/..
 
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6

O09 Bi-allelic variants of FILIP1 cause congenital myopathy..:

Roos, A. ; van der Ven, P. ; Alrohaif, H....
Neuromuscular Disorders.  33 (2023)  - p. S130 , 2023
Link: https://doi.org/10.1016/..
 
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7

P.084 The Canadian Neuromuscular Disease Registry: a nation..:

Westbury, G ; Hodgkinson, V ; Brais, B...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.  50 (2023)  s2 - p. S81-S81 , 2023
Link: https://doi.org/10.1017/..
 
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FP.21 Congenital myasthenic syndrome with Desmin aggregates..:

Polavarapu, K. ; Thompson, R. ; Matalonga, L....
Neuromuscular Disorders.  32 (2022)  - p. S79 , 2022
Link: https://doi.org/10.1016/..
 
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9

Clinical improvement of DM1 patients reflected by reversal ..:

van Cruchten, Remco T. P. ; van As, Daniël ; Glennon, Jeffrey C....
BMC Medicine.  20 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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VP.91 A preliminary assessment of the psychometric properti..:

Nikolenko, N. ; Horrigan, J. ; Snape, M....
Neuromuscular Disorders.  32 (2022)  - p. S133 , 2022
Link: https://doi.org/10.1016/..
 
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11

P.83 Molecular pathology of human PPP1R21 deficiency:

Meyer, N. ; Kohlschmidt, N. ; Lochmüller, H....
Neuromuscular Disorders.  32 (2022)  - p. S76 , 2022
Link: https://doi.org/10.1016/..
 
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12

P.203 Biomarkers for central nervous system involvement in ..:

Varghese, A. ; Spendiff, S. ; Ross, A..
Neuromuscular Disorders.  32 (2022)  - p. S130 , 2022
Link: https://doi.org/10.1016/..
 
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P.90 Understanding the role of GFPT1 in congenital myasthen..:

Holland, S. ; O'Neil, D. ; Spendiff, S..
Neuromuscular Disorders.  32 (2022)  - p. S80 , 2022
Link: https://doi.org/10.1016/..
 
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VP.17 Long-term effect of nusinersen treatment on motor, re..:

Pechmann, A. ; Behrens, M. ; Bernert, G....
Neuromuscular Disorders.  32 (2022)  - p. S63-S64 , 2022
Link: https://doi.org/10.1016/..
 
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15

P.98 Calculating the genetic prevalence of congenital myast..:

Thompson, R. ; Rodger, S. ; Polavarapu, K....
Neuromuscular Disorders.  32 (2022)  - p. S82 , 2022
Link: https://doi.org/10.1016/..
 
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