Associated Papers
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Hypomyelinating Leukodystrophy 10 (HLD10)-Associated Mutations of PYCR2 Form Large Size Mitochondria, Inhibiting Oligodendroglial Cell Morphological Differentiation.
Torii T et al.
Neurology International, 2022
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Testard Q et al.
Journal of Medical Genetics, 2022
Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.
Manaspon C et al.
American Journal of Medical Genetics. Part A, 2021
Disease variants of human Δ1-pyrroline-5-carboxylate reductase 2 (PYCR2).
Patel SM et al.
Archives of Biochemistry and Biophysics, 2021
Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature.
Afroze B et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2020
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Meng L et al.
American Journal of Medical Genetics. Part A, 2017
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Nakayama T et al.
American Journal of Human Genetics, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
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