E-LIB Suche - Ergebnisse für: Crawford, Thomas O.

1

Safety and Efficacy of Apitegromab in Patients With Spinal ..:

Crawford, Thomas O. ; Darras, Basil T. ; Day, John W....
Neurology. 102 (2024) 5 - p. , 2024

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

2

Continued benefit of nusinersen initiated in the presymptom..:

Crawford, Thomas O. ; Swoboda, Kathryn J. ; De Vivo, Darryl C....
Muscle & Nerve. 68 (2023) 2 - p. 157-170 , 2023

Link: https://doi.org/10.1002/..

3

Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambula..:

Finkel, Richard S. ; Darras, Basil T. ; Mendell, Jerry R....
Journal of Neuromuscular Diseases. 10 (2023) 3 - p. 389-404 , 2023

Link: https://doi.org/10.3233/..

4

Identifying Biomarkers of Spinal Muscular Atrophy for Furth..:

Glascock, Jacqueline ; Darras, Basil T. ; Crawford, Thomas O....
Journal of Neuromuscular Diseases. 10 (2023) 5 - p. 937-954 , 2023

Link: https://doi.org/10.3233/..

5

Early treatment is a lifeline for infants with SMA:

Sumner, Charlotte J. ; Crawford, Thomas O.
Nature Medicine. 28 (2022) 7 - p. 1348-1349 , 2022

Link: https://doi.org/10.1038/..

6

TRPV4 mutations causing mixed neuropathy and skeletal pheno..:

Taga, Arens ; Peyton, Margo A. ; Goretzki, Benedikt...
Annals of Clinical and Translational Neurology. 9 (2022) 3 - p. 375-391 , 2022

Link: https://doi.org/10.1002/..

7

Intron mutations and early transcription termination in Duc..:

Waldrop, Megan A. ; Moore, Steven A. ; Mathews, Katherine D....
Human Mutation. 43 (2022) 4 - p. 511-528 , 2022

Link: https://doi.org/10.1002/..

8

Six Month Results of Spinraza in Adults with Spinal Muscula..:

Zaidman, Craig M. ; Proud, Crystal M. ; Thonhoff, Jason R....
Neurology. 96 (2021) 15_supplement - p. , 2021

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

9

Improving the efficacy of exome sequencing at a quaternary ..:

Grunseich, Christopher ; Sarkar, Nathan ; Lu, Joyce...
Journal of Neurology, Neurosurgery & Psychiatry. 92 (2021) 11 - p. 1186-1196 , 2021

Link: https://doi.org/10.1136/..

10

Plasma Phosphorylated Neurofilament Heavy Chain (pNF-H) Lev..:

Farrar, Michelle A. ; Muntoni, Francesco ; Sumner, Charlotte J....
Neurology. 96 (2021) 15_supplement - p. , 2021

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

11

Safety and efficacy of nusinersen in spinal muscular atroph..:

Acsadi, Gyula ; Crawford, Thomas O. ; Müller‐Felber, Wolfgang...
Muscle & Nerve. 63 (2021) 5 - p. 668-677 , 2021

Link: https://doi.org/10.1002/..

12

Detection of SMN1 to SMN2 gene conversion events and partia..:

Stabley, Deborah L. ; Holbrook, Jennifer ; Scavina, Mena...
neurogenetics. 22 (2021) 1 - p. 53-64 , 2021

Link: https://doi.org/10.1007/..

13

Growth in ataxia telangiectasia:

Natale, Valerie A. I. ; Cole, Tim J. ; Rothblum-Oviatt, Cynthia...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

14

Clinical and genetic spectrum of a large cohort of patients..:

Alonso-Pérez, Jorge ; González-Quereda, Lidia ; Bruno, Claudio...
Brain. 145 (2021) 2 - p. 596-606 , 2021

Link: https://doi.org/10.1093/..

15

Correction to: Growth in ataxia telangiectasia:

Natale, Valerie A. I. ; Cole, Tim J. ; Rothblum-Oviatt, Cynthia...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..