Mehrdad A Estiar

2PUBLICATIONS
28CO-AUTHORS
Neurology and neuromuscular diseasesMedical biochemistry - amino acids and metabolites
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Publications (2)

|Dec 28, 2024
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Manon Degoutin, Chloé Angelini, Claire Bar

|Jun 02, 2022
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.

Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari

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Frequent Collaborators

2 joint publications

Ziv Gan-Or

2 joint publications

Guy A Rouleau

1 joint publications

Franziska Paul

1 joint publications

Umar Bin Mohamad Sahari