Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
M Costa-Roger, L Blasco-Pérez, L Gerin… - Neurology …, 2024 - neurology.org
Background and Objectives Spinal muscular atrophy (SMA) is a recessive neuromuscular
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
[HTML][HTML] Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
M Costa-Roger, L Blasco-Pérez, L Gerin… - Neurology …, 2024 - pmc.ncbi.nlm.nih.gov
Background and Objectives Spinal muscular atrophy (SMA) is a recessive neuromuscular
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
Complex SMN Hybrids Detected in a Cohort of 31 Patients with Spinal Muscular Atrophy
M Costa-Roger, L Blasco-Pérez, L Gerin… - Neurology …, 2024 - uvsq.hal.science
Background and Objectives: Spinal muscular atrophy (SMA) is a recessive neuromuscular
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
M Costa-Roger, L Blasco-Pérez, L Gerin… - Neurology …, 2024 - pubmed.ncbi.nlm.nih.gov
Background and objectives Spinal muscular atrophy (SMA) is a recessive neuromuscular
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
M Costa Roger, L Blasco Pérez, L Gerin… - recercat.cat
Background and Objectives Spinal muscular atrophy (SMA) is a recessive neuromuscular
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
[PDF][PDF] Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
M Costa Roger, L Blasco Pérez, L Gerin… - 2024 - scientiasalut.gencat.cat
Background and Objectives Spinal muscular atrophy (SMA) is a recessive neuromuscular
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
disorder caused by the loss or presence of point pathogenic variants in the SMN1 gene. The …
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.
M Costa-Roger, L Blasco-Pérez, L Gerin… - Neurology …, 2024 - europepmc.org
Methods We studied 31 patients with SMA, followed at a single center and molecularly
diagnosed by Multiplex Ligand-Dependent Probe Amplification (MLPA), with a specific next …
diagnosed by Multiplex Ligand-Dependent Probe Amplification (MLPA), with a specific next …
[PDF][PDF] Complex SMN Hybrids Detected in a Cohort of 31 Patients with Spinal Muscular Atrophy
M Costa-Roger, L Blasco-Pérez, M Codina-Solà… - Neurology …, 2024 - hal.science
Résumé Copyright© 2024 The Author (s). Published by Wolters Kluwer Health, Inc. on
behalf of the American Academy of Neurology. Background and ObjectivesSpinal muscular …
behalf of the American Academy of Neurology. Background and ObjectivesSpinal muscular …