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AGUENNOUZ M.

Last name: AGUENNOUZ M.

2020 (v1)

Publication

Metadata-only

A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration

Efthymiou S. Kriouile Y. Vincenzo Salpietro

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Uploaded on: March 27, 2023
2019 (v1)

Publication

Metadata-only

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation

Chelban V. Wilson M. P. Warman Chardon J.

Objective To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. Methods We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure...

Uploaded on: April 14, 2023