Severe brain involvement in 5q spinal muscular atrophy type 0-Reference-Cited by-同舟云学术

Severe brain involvement in 5q spinal muscular atrophy type 0

Published:2019-07-24 Issue:3 Volume:86 Page:458-462
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Mendonça Rodrigo H.¹,Rocha Antônio J.²,Lozano‐Arango Andres³^ORCID,Diaz Astry B.³,Castiglioni Claudia⁴^ORCID,Silva André M. S.¹^ORCID,Reed Umbertina C.¹,Kulikowski Leslie⁵,Paramonov Ida⁶,Cuscó Ivon⁶,Tizzano Eduardo F.⁶^ORCID,Zanoteli Edmar¹^ORCID

Affiliation:

1. Department of Neurology, Faculdade de MedicinaUniversidade de São Paulo (FMUSP) São Paulo Brazil

2. Neuroradiology SectionHigh Diagnostic Excellence (DASA Group) São Paulo Brazil

3. Hernan Henriquez Aravena Regional Hospital Temuco Chile

4. Department of Pediatric NeurologyLas Condes Clinic Santiago Chile

5. Department of Pathology, Faculdade de MedicinaUniversidade de São Paulo (FMUSP) São Paulo Brazil

6. Department of Clinical and Molecular Genetics, Valle Hebron University HospitalMedicine Genetics Group, Valle Hebron Research Institute Barcelona Spain

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25549

Reference20 articles.

1. Identification and characterization of a spinal muscular atrophy-determining gene

2. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

3. The clinical landscape for SMA in a new therapeutic era

4. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype

5. Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients

Cited by 36 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Intrathecal nusinersen treatment in a Chinese patient with spinal muscular atrophy type 3 after ventriculo-peritoneal shunt placement: A case report and review of literature;Brain and Development Case Reports;2024-12

2. Clinical perspectives: Treating spinal muscular atrophy;Molecular Therapy;2024-08

3. The Impact of Comorbidities and Motor Impairment on the Quality of Life of Patients with Spinal Muscular Atrophy: A Case–Control Study;Journal of Clinical Medicine;2024-07-17

4. Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life;European Journal of Paediatric Neurology;2024-07

5. Treatment Options in Spinal Muscular Atrophy: A Pragmatic Approach for Clinicians;Drugs;2024-06-15