Mutation inCPT1CAssociated With Pure Autosomal Dominant Spastic Paraplegia

Author:

Rinaldi Carlo1,Schmidt Thomas2,Situ Alan J.2,Johnson Janel O.3,Lee Philip R.4,Chen Ke-lian1,Bott Laura C.5,Fadó Rut6,Harmison George H.1,Parodi Sara7,Grunseich Christopher1,Renvoisé Benoît1,Biesecker Leslie G.8,De Michele Giuseppe9,Santorelli Filippo M.10,Filla Alessandro9,Stevanin Giovanni11,Dürr Alexandra12,Brice Alexis12,Casals Núria6,Traynor Bryan J.3,Blackstone Craig1,Ulmer Tobias S.2,Fischbeck Kenneth H.1

Affiliation:

1. Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland

2. Department of Biochemistry and Molecular Biology, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles

3. Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland

4. Section on Nervous System Development and Plasticity, The Eunice Kennedy Shriver National Institute of Child and Human Development, National Institutes of Health, Bethesda, Maryland

5. Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland5Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden

6. Basic Sciences Department, Facultat de Medicina i Ciències de la Salut, Universitat Internacional de Catalunya, and CIBER Fisiopatología de la Obesidad y la Nutrición (CIBERobn), Sant Cugat del Vallés, Spain

7. Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland7Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Genoa, Italy

8. Genetic Disease Research Branch, National Human Genome Research Institute, and the National Institutes of Health Intramural Sequencing Center, National Institutes of Health, Bethesda, Maryland

9. Department of Neurosciences, Reproductive Sciences, and Odontostomatology, University of Naples Federico II, Naples, Italy

10. Neurogenetics Istituto di Ricovero e Cura a Carattere Scientifico, Stella Maris, Pisa, Italy

11. Institut du Cerveau et de la Moelle Épinière, Paris, France12Laboratoire de Neurogénétique, École Pratique des Hautes Études–héSam Université, Institut du Cerveau et de la Moelle Épinière, Groupe Hospitalier Pitié–Salpêtrière, Paris, France13Sorbonne Univ

12. Institut du Cerveau et de la Moelle Épinière, Paris, France13Sorbonne Universités, Université Pierre et Marie Curie, Institut du Cerveau et de la Moelle Épinière, Paris, France14Department of Genetics, Assistance Publique Hopitaux de Paris, Groupe Hospita

Publisher

American Medical Association (AMA)

Subject

Neurology (clinical)

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