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Journal of Neuromuscular Diseases
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April 18, 2022
Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?
Oliver Schwartz, Heike Kölbel, Astrid Blaschek, et al.
Orphanet Journal of Rare Diseases
|
July 19, 2022
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Andreas Hahn, René Günther, Albert Ludolph, et al.
Orphanet Journal of Rare Diseases
|
October 26, 2022
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Andreas Hahn, René Günther, Albert Ludolph, et al.
Journal of Neuromuscular Diseases
|
July 18, 2022
Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
Astrid Blaschek, Heike Kölbel, Oliver Schwartz, et al.
Molecular Genetics and Metabolism Reports
|
December 14, 2020
L-Fucose treatment of FUT8-CDG
Julien H Park, Janine Reunert, Miao He, et al.
Der Nervenarzt
|
October 15, 2021
[Newborn screening program for spinal muscular atrophy]
Heike Kölbel, Katharina Vill, Oliver Schwartz, et al.
Journal of Neuromuscular Diseases
|
April 26, 2018
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
Astrid Pechmann, Thorsten Langer, David Schorling, et al.
Journal of Neurology
|
October 7, 2020
Seizures associated with antibodies against cell surface antigens are acute symptomatic and not indicative of epilepsy: insights from long-term data
Anna Rada, Robert Birnbacher, Claudio Gobbi, et al.
Brain : a Journal of Neurology
|
July 24, 2019
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis
Julien H Park, Christiane Elpers, Janine Reunert, et al.
Journal of Neuromuscular Diseases
|
March 8, 2020
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Wolfgang Müller-Felber, Katharina Vill, Oliver Schwartz, et al.
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of 4
Search research articles
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Showing results (11-20 of 34) with videos related to
Sort By:
Page
of 4
Journal of Neuromuscular Diseases
|
April 18, 2022
Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?
Oliver Schwartz, Heike Kölbel, Astrid Blaschek, et al.
Orphanet Journal of Rare Diseases
|
July 19, 2022
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Andreas Hahn, René Günther, Albert Ludolph, et al.
Orphanet Journal of Rare Diseases
|
October 26, 2022
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Andreas Hahn, René Günther, Albert Ludolph, et al.
Journal of Neuromuscular Diseases
|
July 18, 2022
Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
Astrid Blaschek, Heike Kölbel, Oliver Schwartz, et al.
Molecular Genetics and Metabolism Reports
|
December 14, 2020
L-Fucose treatment of FUT8-CDG
Julien H Park, Janine Reunert, Miao He, et al.
Der Nervenarzt
|
October 15, 2021
[Newborn screening program for spinal muscular atrophy]
Heike Kölbel, Katharina Vill, Oliver Schwartz, et al.
Journal of Neuromuscular Diseases
|
April 26, 2018
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
Astrid Pechmann, Thorsten Langer, David Schorling, et al.
Journal of Neurology
|
October 7, 2020
Seizures associated with antibodies against cell surface antigens are acute symptomatic and not indicative of epilepsy: insights from long-term data
Anna Rada, Robert Birnbacher, Claudio Gobbi, et al.
Brain : a Journal of Neurology
|
July 24, 2019
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis
Julien H Park, Christiane Elpers, Janine Reunert, et al.
Journal of Neuromuscular Diseases
|
March 8, 2020
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Wolfgang Müller-Felber, Katharina Vill, Oliver Schwartz, et al.
Page
of 4