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1

244th ENMC international workshop: Newborn screening in spi..:

Dangouloff, Tamara ; Burghes, Arthur ; Tizzano, Eduardo F....
Neuromuscular Disorders. 30 (2020) 1 - p. 93-103 , 2020

Link: https://doi.org/10.1016/..

2

Safety and Efficacy of Nusinersen in Infants/Children with ..:

Shieh, Perry B. ; Acsadi, Gyula ; Mueller-Felber, Wolfgang...
Neurology. 90 (2018) 15_supplement - p. , 2018

Link: https://doi.org/10.1212/..

3

Pattern of myogenesis and vascular repair in early and adva..:

Baumann, Matthias ; Gumpold, Christiane ; Mueller-Felber, Wolfgang...
Neuromuscular Disorders. 28 (2018) 12 - p. 973-985 , 2018

Link: https://doi.org/10.1016/..

4

The pompe registry: Baseline data from the first five years:

Kishnani, Priya ; Byrne, Barry ; Case, Laura...
Molecular Genetics and Metabolism. 102 (2011) 2 - p. S24 , 2011

Link: https://doi.org/10.1016/..

5

Consensus Statement on Standard of Care for Congenital Musc..:

Wang, Ching H. ; Bonnemann, Carsten G. ; Rutkowski, Anne...
Journal of Child Neurology. 25 (2010) 12 - p. 1559-1581 , 2010

Link: https://doi.org/10.1177/..

6

53. The Pompe Registry: Centralized data collection to trac..:

Kishnani, Priya ; Byrne, Barry ; Case, Laura...
Molecular Genetics and Metabolism. 93 (2008) 2 - p. 27 , 2008

Link: https://doi.org/10.1016/..

7

Deficiency in complex IV (cytochrome c oxidase) of the resp..:

Zafeiriou, Dimitrios I. ; Koletzko, Berthold ; Mueller-Felber, Wolfgang...
Brain and Development. 17 (1995) 2 - p. 117-121 , 1995

Link: https://doi.org/10.1016/..

8

244th ENMC International Workshop: Newborn screening in Spi..:

Dangouloff, Tamara ; Burghes, Arthur ; Bertini, Enrico...
urn:issn:0960-8966. , 2020

Link: https://orbi.uliege.be/h..

9

A phase 3 randomized placebo-controlled trial of tadalafil ..:

Victor, Ronald G ; Sweeney, H Lee ; Finkel, Richard...
qt4kh2367q. , 2017

Link: https://escholarship.org..

10

Absence of an Orphan Mitochondrial Protein, C19orf12, Cause..:

Hartig, Monika B ; Iuso, Arcangela ; Haack, Tobias...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188837. , 2011

Link: http://www.ncbi.nlm.nih...

11

The pompe registry: Baseline data from the first five years:

Duke University Medical Center, Durham, NC, USA ( host institution ) ; Kishnani, Priya ; Byrne, Barry...
Molecular Genetics and Metabolism. , 2011

Link: http://ufdc.ufl.edu/LS00..

12

Consensus Statement on Standard of Care for Congenital Musc..:

Wang, Ching H ; Bonnemann, Carsten G ; Rutkowski, Anne...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207780/. , 2010

Link: http://www.ncbi.nlm.nih...

13

53. The Pompe Registry: Centralized data collection to trac..:

Duke University Medical Center, Durham, NC, USA ( host institution ) ; Kishnani, Priya ; Byrne, Barry...
Molecular Genetics and Metabolism. , 2008

Link: http://ufdc.ufl.edu/LS00..

14

The pompe registry: Baseline data from the first five years:

Duke University Medical Center, Durham, NC, USA ( host institution ) ; Kishnani, Priya ( author ) ; Byrne, Barry ( author )...
Molecular Genetics and Metabolism. , 2011

Link: https://doi.org/10.1016/..

15

53. The Pompe Registry: Centralized data collection to trac..:

Duke University Medical Center, Durham, NC, USA ( host institution ) ; Kishnani, Priya ( author ) ; Byrne, Barry ( author )...
Molecular Genetics and Metabolism. , 2008

Link: https://doi.org/10.1016/..

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