Mariko Taniguchi-Ikeda
4PUBLICATIONS
16CO-AUTHORS
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Publications (4)
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|Nov 25, 2022
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.Sarantuya Enkhjargal, Kana Sugahara, Behnoush Khaledian
|Apr 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris
|May 27, 2020
Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy.Shigefumi Morioka, Hirofumi Sakaguchi, Hiroaki Mohri
|Dec 16, 2017
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.M Taniguchi-Ikeda, N Morisada, H Inagaki
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Frequent Collaborators
1 joint publications
Hiroaki Mohri
1 joint publications
Yuko Miyagoe-Suzuki
1 joint publications
Takehiko Ueyama
1 joint publications
Sanjiban Chakrabarty
1 joint publications
Irene Liparulo
1 joint publications
Alessandra Maresca
1 joint publications
Mariasavina Severino
1 joint publications
Tsuyoshi Goto
1 joint publications
Ichizo Nishino
1 joint publications
Tatsushi Toda
