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Journal of Neuromuscular Diseases
|
November 21, 2019
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1
Astrid Pechmann, Matthias Baumann, Günther Bernert, et al.
The Lancet. Child & Adolescent Health
|
November 10, 2021
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
Claudia Weiß, Andreas Ziegler, Lena-Luise Becker, et al.
Journal of Neuromuscular Diseases
|
September 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study
Benedikt Becker, Isabell Cordts, Jutta Becker, et al.
Brain : a Journal of Neurology
|
July 20, 2022
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
JAMA Pediatrics
|
April 8, 2024
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, et al.
Journal of Neuromuscular Diseases
|
December 24, 2022
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
Orphanet Journal of Rare Diseases
|
October 24, 2022
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
Plos Genetics
|
March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.
Journal of Neurology
|
February 27, 2024
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
Katharina Vill, Moritz Tacke, Anna König, et al.
Brain : a Journal of Neurology
|
February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Afshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
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Search research articles
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Showing results (31-40 of 40) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 40 results.
Journal of Neuromuscular Diseases
|
November 21, 2019
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1
Astrid Pechmann, Matthias Baumann, Günther Bernert, et al.
The Lancet. Child & Adolescent Health
|
November 10, 2021
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
Claudia Weiß, Andreas Ziegler, Lena-Luise Becker, et al.
Journal of Neuromuscular Diseases
|
September 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study
Benedikt Becker, Isabell Cordts, Jutta Becker, et al.
Brain : a Journal of Neurology
|
July 20, 2022
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
JAMA Pediatrics
|
April 8, 2024
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, et al.
Journal of Neuromuscular Diseases
|
December 24, 2022
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
Orphanet Journal of Rare Diseases
|
October 24, 2022
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
Plos Genetics
|
March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.
Journal of Neurology
|
February 27, 2024
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
Katharina Vill, Moritz Tacke, Anna König, et al.
Brain : a Journal of Neurology
|
February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Afshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
Page
of 4