Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy-Reference-Cited by-同舟云学术

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

Published:2023-08 Issue:4 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Fernández-Eulate Gorka¹^ORCID,Theuriet Julian¹,Record Christopher J.¹^ORCID,Querin Giorgia¹,Masingue Marion¹,Leonard-Louis Sarah¹^ORCID,Behin Anthony¹,Le Forestier Nadine¹,Pegat Antoine¹^ORCID,Michaud Maud¹,Chanson Jean-Baptiste¹,Nadaj-Pakleza Aleksandra¹,Tard Celine¹,Bedat-Millet Anne-Laure¹,Sole Guilhem¹^ORCID,Spinazzi Marco¹,Salort-Campana Emmanuelle¹^ORCID,Echaniz-Laguna Andoni¹,Poinsignon Vianney¹^ORCID,Latour Philippe¹,Reilly Mary M.¹,Bouhour Francoise¹,Stojkovic Tanya¹^ORCID

Affiliation:

1. From the Nord/Est/Ile-de-France Neuromuscular Reference Center (G.F.-E., G.Q., M. Masingue, S.L.-L., A.B., T.S.), Institut de Myologie, Pitié-Salpêtrière Hospital, Paris; Electromyography and Neuromuscular Department (J.T., A.P., F.B.), Hospices Civils de Lyon; Centre for Neuromuscular Diseases (C.J.R., M.M.R.), UCL Queen Square Institute of Neurology, London, United Kingdom; Neurology Department (N.L.F.), Pitié-Salpêtrière Hospital, Paris; Nord/Est/Ile-de-France Neuromuscular Reference Center (M....

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200087

Reference40 articles.

1. Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges

2. The distal hereditary motor neuropathies;Rossor AM;J Neurol Neurosurg Psychiatry,2012

3. The expanding genetic landscape of hereditary motor neuropathies

4. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

5. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2-13.3;Brzustowicz LM;Nature,1990

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