Demyelinating motor neuropathy associated with a homozygous GPT2 pathogenic variant
Lyse Ruaud MD
INSERM UMR 1141, Neurodiderot, University of Paris, Paris, France
Department of Genetics, APHP, Robert-Debré Hospital, Paris, France
Search for more papers by this authorBoris Keren MD, PhD
Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorRabab Debs MD
Department of Clinical Neurophysiology, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorCyril Mignot MD, PhD
Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France
Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorCorresponding Author
Fanny Mochel MD, PhD
Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France
INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France
Correspondence
Fanny Mochel, Département de Génétique and Centre de Référence Neurométabolique Adulte, Hôpital Pitié-Salpêtrière, F-75013 Paris, France.
Email: [email protected]
Search for more papers by this authorLyse Ruaud MD
INSERM UMR 1141, Neurodiderot, University of Paris, Paris, France
Department of Genetics, APHP, Robert-Debré Hospital, Paris, France
Search for more papers by this authorBoris Keren MD, PhD
Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorRabab Debs MD
Department of Clinical Neurophysiology, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorCyril Mignot MD, PhD
Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France
Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière University Hospital, Paris, France
Search for more papers by this authorCorresponding Author
Fanny Mochel MD, PhD
Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France
INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France
Correspondence
Fanny Mochel, Département de Génétique and Centre de Référence Neurométabolique Adulte, Hôpital Pitié-Salpêtrière, F-75013 Paris, France.
Email: [email protected]
Search for more papers by this author
Open Research
DATA AVAILABILITY STATEMENT
The data that support the findings of this study are available from the corresponding author upon reasonable request.
REFERENCES
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