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Rufibach, Laura
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1

Utilization of Targeted RNA-Seq for the Resolution of Varia..:

Rufibach, Laura ; Berger, Kiera ; Chakravorty, Samya...
Journal of Personalized Medicine.  13 (2023)  3 - p. 520 , 2023
Link: https://doi.org/10.3390/..
 
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2

Myostatin and follistatin as monitoring and prognostic biom..:

Moore, Ursula ; Fernández-Simón, Esther ; Schiava, Marianela...
Neuromuscular Disorders.  33 (2023)  2 - p. 199-207 , 2023
Link: https://doi.org/10.1016/..
 
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3

Patient reported pregnancy and birth outcomes in genetic ne..:

Moore, Ursula ; Emmons, Sarah Shira ; Rufibach, Laura...
Neuromuscular Disorders.  33 (2023)  3 - p. 241-249 , 2023
Link: https://doi.org/10.1016/..
 
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4

Expanding the muscle imaging spectrum in dysferlinopathy: d..:

Llansó, Laura ; Moore, Ursula ; Bolano-Diaz, Carla...
Neuromuscular Disorders.  33 (2023)  4 - p. 349-357 , 2023
Link: https://doi.org/10.1016/..
 
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5

4-Phenylbutyrate restores localization and membrane repair ..:

Tominaga, Kana ; Tominaga, Naoomi ; Williams, Eric O....
iScience.  25 (2022)  1 - p. 103667 , 2022
Link: https://doi.org/10.1016/..
 
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6

Water T2 could predict functional decline in patients with ..:

Moore, Ursula ; Caldas de Almeida Araújo, Ericky ; Reyngoudt, Harmen...
Journal of Cachexia, Sarcopenia and Muscle.  13 (2022)  6 - p. 2888-2897 , 2022
Link: https://doi.org/10.1002/..
 
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7

Three‐year quantitative magnetic resonance imaging and phos..:

Reyngoudt, Harmen ; Smith, Fiona E. ; Caldas de Almeida Araújo, Ericky...
Journal of Cachexia, Sarcopenia and Muscle.  13 (2022)  3 - p. 1850-1863 , 2022
Link: https://doi.org/10.1002/..
 
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8

Intensive Teenage Activity Is Associated With Greater Muscl..:

Moore, Ursula ; Jacobs, Marni ; Fernandez-Torron, Roberto...
Frontiers in Neurology.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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9

Correction of pseudoexon splicing caused by a novel introni..:

Dominov, Janice A. ; Uyan, Özgün ; McKenna‐Yasek, Diane...
Annals of Clinical and Translational Neurology.  6 (2019)  4 - p. 642-654 , 2019
Link: https://doi.org/10.1002/..
 
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10

Genetic landscape and novel disease mechanisms from a large..:

Nallamilli, Babi Ramesh Reddy ; Chakravorty, Samya ; Kesari, Akanchha...
Annals of Clinical and Translational Neurology.  5 (2018)  12 - p. 1574-1587 , 2018
Link: https://doi.org/10.1002/..
 
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11

229th ENMC international workshop: Limb girdle muscular dys..:

Straub, Volker ; Murphy, Alexander ; Udd, Bjarne...
Neuromuscular Disorders.  28 (2018)  8 - p. 702-710 , 2018
Link: https://doi.org/10.1016/..
 
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12

Detection of dysferlin gene pathogenic variants in the Indi..:

Dastur, RashnaSam ; Gaitonde, PradnyaSatish ; Kachwala, Munira...
Annals of Indian Academy of Neurology.  20 (2017)  3 - p. 302 , 2017
Link: https://doi.org/10.4103/..
 
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13

ANO5Gene Analysis in a Large Cohort of Patients with Anocta..:

Sarkozy, Anna ; Hicks, Debbie ; Hudson, Judith...
Human Mutation.  34 (2013)  8 - p. 1111-1118 , 2013
Link: https://doi.org/10.1002/..
 
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14

Assessing the Relationship of Patient Reported Outcome Meas..:

Mayhew, Anna G. ; James, Meredith K. ; Moore, Ursula...
Frontiers in Neurology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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15

Comparison of strength testing modalities in dysferlinopath:

Reash, Natalie F. ; James, Meredith K. ; Alfano, Lindsay N....
Muscle & Nerve.  66 (2022)  2 - p. 159-166 , 2022
Link: https://doi.org/10.1002/..
 
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