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1 . Academic Journal
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
저자
by
Rhett G. Marchant
;
Samantha J. Bryen
;
Melanie Bahlo
;
Anita Cairns
;
Katherine R. Chao
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)
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7 . Academic Journal
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy
저자
by
Francesco Muntoni
;
Barry J. Byrne
;
Hugh J. McMillan
;
Monique M. Ryan
;
Brenda L. Wong
, et al.
소스
Neurology and Therapy, Vol 13, Iss 1, Pp 183-219 (2024)
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7 . Academic Journal
A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice
저자
by
Ian R. Woodcock
;
George Tachas
;
Nuket Desem
;
Peter J. Houweling
;
Michael Kean
, et al.
소스
PLoS ONE, Vol 19, Iss 1 (2024)
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7 . Academic Journal
Scientific rationale for a higher dose of nusinersen
저자
by
Richard S. Finkel
;
Monique M. Ryan
;
Samuel Ignacio Pascual Pascual
;
John W. Day
;
Eugenio Mercuri
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 9, Iss 6, Pp 819-829 (2022)
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7 . Academic Journal
Aicardi Syndrome Is a Genetically Heterogeneous Disorder
저자
by
Thuong T. Ha
;
Rosemary Burgess
;
Morgan Newman
;
Ching Moey
;
Simone A. Mandelstam
, et al.
소스
Genes, Vol 14, Iss 8, p 1565 (2023)
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7 . Academic Journal
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
저자
by
Arlene M. D'Silva
;
Sandra Holland
;
Didu Kariyawasam
;
Karen Herbert
;
Peter Barclay
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 9, Iss 3, Pp 339-350 (2022)
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7 . Academic Journal
Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient
저자
by
Peter J. Houweling
;
Chantal A. Coles
;
Chrystal F. Tiong
;
Bridget Nielsen
;
Alison Graham
, et al.
소스
Stem Cell Research, Vol 54, Iss , Pp 102429- (2021)
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7 . Academic Journal
The Relationship between Obesity and Clinical Outcomes in Young People with Duchenne Muscular Dystrophy
저자
by
Natassja Billich
;
Justine Adams
;
Kate Carroll
;
Helen Truby
;
Maureen Evans
, et al.
소스
Nutrients, Vol 14, Iss 3304, p 3304 (2022)
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7 . Academic Journal
Neurofilament as a potential biomarker for spinal muscular atrophy
저자
by
Basil T. Darras
;
Thomas O. Crawford
;
Richard S. Finkel
;
Eugenio Mercuri
;
Darryl C. De Vivo
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 932-944 (2019)
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7 . Academic Journal
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function
저자
by
Nicole J. Van Bergen
;
Daniella H. Hock
;
Lucy Spencer
;
Sean Massey
;
Tegan Stait
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 2, p 986 (2022)
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