The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Author:

Lee Michelle M.1,McDowell Graeme S. V.2,De Vivo Darryl C.3,Friedman Daniel4,Berkovic Samuel F.5ORCID,Spanou Maria6,Dinopoulos Argirios6,Grand Katheryn7,Sanchez‐Lara Pedro A.7,Allen‐Sharpley Michelle7,Warman‐Chardon Jodi89,Solyom Alexander10,Levade Thierry11,Schuchman Edward H.12,Bennett Steffany A. L.2,Dyment David A.9ORCID,Pearson Toni S.13ORCID

Affiliation:

1. Department of Neurology Washington University School of Medicine St. Louis Missouri USA

2. Neural Regeneration Laboratory, Ottawa Institute of Systems Biology, Department of Biochemistry, Microbiology and Immunology University of Ottawa Ottawa Ontario Canada

3. Departments of Neurology and Pediatrics Columbia University Irving Medical Center New York New York USA

4. Department of Neurology NYU Grossman School of Medicine New York New York USA

5. Epilepsy Research Centre, Department of Medicine University of Melbourne Heidelberg Victoria Australia

6. Pediatric Neurology Division, 3rd Department of Pediatrics Attikon University Hospital Athens Greece

7. Department of Pediatrics Cedars‐Sinai Medical Center Los Angeles California USA

8. Department of Medicine (Neurology) Ottawa Hospital Research Institute Ottawa Ontario Canada

9. Children's Hospital of Eastern Ontario Research Institute Ottawa Ontario Canada

10. Aceragen Basel Switzerland

11. Laboratoire de Biochimie Métabolique CHU Toulouse, INSERM U1037, Centre de Recherches en Cancérologie de Toulouse, Université Paul Sabatier Toulouse Toulouse France

12. Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

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