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6 in total

1. Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.

Authors: Júlia Hatagami Marques; Guilherme Lopes Yamamoto; Larissa de Cássia Testai; Alexandre da Costa Pereira; Chong Ae Kim; Maria R Passos-Bueno; Débora Romeo Bertola
Journal: Mol Syndromol Date: 2015-05-27

2. Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

Authors: Yutaka Negishi; Ayako Hattori; Eri Takeshita; Chika Sakai; Naoki Ando; Tetsuya Ito; Yu-ichi Goto; Shinji Saitoh
Journal: J Hum Genet Date: 2014-05-15 Impact factor: 3.172

Review 3. Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

Authors: Débora Romeo Bertola; Rachel S Honjo; Wagner A R Baratela
Journal: Mol Syndromol Date: 2016-03-16

4. A method for mutagenesis of mouse mtDNA and a resource of mouse mtDNA mutations for modeling human pathological conditions.

Authors: Rafik Z Fayzulin; Michael Perez; Natalia Kozhukhar; Domenico Spadafora; Glenn L Wilson; Mikhail F Alexeyev
Journal: Nucleic Acids Res Date: 2015-03-27 Impact factor: 16.971

5. Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias.

Authors: Shanshan Zhong; Shumeng Wen; Yusen Qiu; Yanyan Yu; Ling Xin; Yang He; Xuguang Gao; Hezhi Fang; Daojun Hong; Jun Zhang
Journal: Mol Genet Genomic Med Date: 2019-01-08 Impact factor: 2.183

Review 6. Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.

Authors: Hélène Warnier; Christophe Barrea; Sarah Bethlen; Isabelle Schrouff; Julie Harvengt
Journal: Orphanet J Rare Dis Date: 2022-04-23 Impact factor: 4.303

6 in total