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Ulrike Schara-Schmidt
254  results:
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1

Impaired Neurodevelopment in Children with 5q-SMA - 2 Years..:

Kölbel, Heike ; Kopka, Marius ; Modler, Laura...
Journal of Neuromuscular Diseases.  11 (2024)  1 - p. 143-151 , 2024
Link: https://doi.org/10.3233/..
 
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2

Gentherapien bei monogenen Erkrankungen: Welche seltenen Er..:

Blaschek, Astrid ; Ziegler, Andreas ; Hauck, Fabian...
Pädiatrie.  36 (2024)  1 - p. 40-46 , 2024
Link: https://doi.org/10.1007/..
 
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3

Alteration of LARGE1 abundance in patients and a mouse mode..:

Roos, Andreas ; Schmitt, Linda-Isabell ; Hansmann, Christina...
Acta Neuropathologica.  147 (2024)  1 - p. , 2024
Link: https://doi.org/10.1007/..
 
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4

Increased Diagnostic Yield by Reanalysis of Whole Exome Seq..:

Olimpio, Catarina ; Paramonov, Ida ; Matalonga, Leslie...
Journal of Neuromuscular Diseases.  11 (2024)  4 - p. 767-775 , 2024
Link: https://doi.org/10.3233/..
 
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5

Biallelic truncating variants in PACSIN3 cause childhood-on..:

Distelmaier, Felix ; Sezer, Abdullah ; Helm, Christina...
Brain.  147 (2024)  7 - p. e45-e49 , 2024
Link: https://doi.org/10.1093/..
 
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6

Skeletal muscle vulnerability in a child with Pitt-Hopkins ..:

Chiu, Celine ; Küchler, Alma ; Depienne, Christel...
Skeletal Muscle.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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7

Gene replacement therapy in spinal muscular atrophy: fillin..:

Hagenacker, Tim ; Schara-Schmidt, Ulrike
The Lancet Regional Health - Europe.  37 (2024)  - p. 100822 , 2024
Link: https://doi.org/10.1016/..
 
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8

Safety and efficacy of givinostat in boys with Duchenne mus..:

Mercuri, Eugenio ; Vilchez, Juan J ; Boespflug-Tanguy, Odile...
The Lancet Neurology.  23 (2024)  4 - p. 393-403 , 2024
Link: https://doi.org/10.1016/..
 
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9

Novel Genetic and Biochemical Insights into the Spectrum of..:

Della Marina, Adela ; Hentschel, Andreas ; Czech, Artur...
Journal of Neuromuscular Diseases.  11 (2024)  3 - p. 625-645 , 2024
Link: https://doi.org/10.3233/..
 
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10

A Homozygous NDUFS6 Variant Associated with Neuropathy and ..:

Gangfuß, Andrea ; Rating, Philipp ; Ferreira, Tomas...
Journal of Neuromuscular Diseases.  11 (2024)  2 - p. 485-491 , 2024
Link: https://doi.org/10.3233/..
 
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11

The myotubular and centronuclear myopathy patient registry:..:

Bullivant, Joanne ; Sen, Anando ; Page, Jess...
Neuromuscular Disorders.  35 (2024)  - p. 42-52 , 2024
Link: https://doi.org/10.1016/..
 
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12

Deep RNA sequencing of muscle tissue reveals absence of vir..:

Victor M. Corman ; Corinna Preusse ; Julia Melchert...
https://www.uni-muenster.de/Ejournals/index.php/fnp/article/view/5149.  , 2024
Link: https://doi.org/10.17879..
 
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13

Wege zur Therapie neuromuskulärer Erkrankungen in der Neuro..:

Schara-Schmidt, Ulrike ; Linker, Ralf
Der Nervenarzt.  94 (2023)  6 - p. 471-472 , 2023
Link: https://doi.org/10.1007/..
 
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14

The emerging spectrum of fetal acetylcholine receptor antib..:

Allen, Nicholas M ; O'Rahelly, Mark ; Eymard, Bruno...
Brain.  146 (2023)  10 - p. 4233-4246 , 2023
Link: https://doi.org/10.1093/..
 
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15

Analysis of Free Circulating Messenger Ribonucleic Acids in..:

Leo, Markus ; Schmitt, Linda-Isabell ; Mairinger, Fabian...
Cells.  12 (2023)  19 - p. 2374 , 2023
Link: https://doi.org/10.3390/..
 
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