Publications:

---

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.

Scientific Reports

Summa, Sarinya S; Ittiwut, Chupong C; Kulsirichawaroj, Pimchanok P; Paprad, Tanitnun T; Likasitwattanakul, Surachai S; Sanmaneechai, Oranee O; Boonsimma, Ponghatai P; Suphapeetiporn, Kanya K; Shotelersuk, Vorasuk V

Publication Date: 2023-01-25

Variant appearance in text: DMD: 10108C>T; Arg3370Ter

PubMed Link: 36697461

Variant Present in the following documents:

• Main text
• 41598_2023_28405_MOESM1_ESM.pdf
• 41598_2023_Article_28405.pdf

View BVdb publication page

---

2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bidou, Laure L; Bugaud, Olivier O; Merer, Goulven G; Coupet, Matthieu M; Hatin, Isabelle I; Chirkin, Egor E; Karri, Sabrina S; Demais, Stéphane S; François, Pauline P; Cintrat, Jean-Christophe JC; Namy, Olivier O

Publication Date: 2022-08-30

Variant appearance in text: DMD: R3370X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

View BVdb publication page

---

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy.

International Journal Of Environmental Research And Public Health

Sabatelli, Patrizia P; Merlini, Luciano L; Di Martino, Alberto A; Cenni, Vittoria V; Faldini, Cesare C

Publication Date: 2022-01-23

Variant appearance in text: DMD: 10108C>T; R3370X

PubMed Link: 35162283

Variant Present in the following documents:

• Main text
• ijerph-19-01252.pdf

View BVdb publication page

---

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy.

International Journal Of Environmental Research And Public Health

Sabatelli, Patrizia P; Merlini, Luciano L; Di Martino, Alberto A; Cenni, Vittoria V; Faldini, Cesare C

Publication Date: 2022-01-23

Variant appearance in text: DMD: 10108C>T; R3370X

PubMed Link: 35162283

Variant Present in the following documents:

• Main text
• ijerph-19-01252.pdf

View BVdb publication page

---

Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants.

Frontiers In Neurology

Fornander, Freja F; Solheim, Tuva Åsatun TÅ; Eisum, Anne-Sofie Vibæk AV; Poulsen, Nanna Scharff NS; Andersen, Annarita Ghosh AG; Dahlqvist, Julia Rebecka JR; Dunø, Morten M; Vissing, John J

Publication Date: 2021

Variant appearance in text: DMD: 10108C>T

PubMed Link: 34539555

Variant Present in the following documents:

• Main text
• fneur-12-707837.pdf

View BVdb publication page

---

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

Plos One

Yun, UnKyu U; Lee, Seung-Ah SA; Choi, Won Ah WA; Kang, Seong-Woong SW; Seo, Go Hun GH; Lee, Jung Hwan JH; Park, Goeun G; Lee, Sujee S; Choi, Young-Chul YC; Park, Hyung Jun HJ

Publication Date: 2021

Variant appearance in text: DMD: 10108C>T; Arg3370Ter

PubMed Link: 34297739

Variant Present in the following documents:

• pone.0255011.s001.pdf

View BVdb publication page

---

Theragnosis for Duchenne Muscular Dystrophy.

Frontiers In Pharmacology

Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F

Publication Date: 2021

Variant appearance in text: DMD: 10108C>T; Arg3370*

PubMed Link: 34149409

Variant Present in the following documents:

• Main text
• fphar-12-648390.pdf

View BVdb publication page

---

Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases

Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y

Publication Date: 2021-06-02

Variant appearance in text: DMD: 10108C>T; Arg3370*

PubMed Link: 34078427

Variant Present in the following documents:

• 13023_2021_1853_MOESM1_ESM.pdf

View BVdb publication page

---

Quadriceps muscle strength in Duchenne muscular dystrophy and effect of corticosteroid treatment.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Merlini, Luciano L; Cecconi, Ilaria I; Parmeggiani, Antonia A; Cordelli, Duccio Maria DM; Dormi, Ada A

Publication Date: 2020-12

Variant appearance in text: DMD: 10108C>T; Arg3370*

PubMed Link: 33458575

Variant Present in the following documents:

• Main text
• am-2020-04-200.pdf

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: DMD: R3370*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V

Publication Date: 2020-09

Variant appearance in text: DMD: 10108C>T; R3370*

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Clinical and genetic characteristics of female dystrophinopathy carriers.

Molecular Medicine Reports

Zhong, Jingzi J; Xie, Yanshu Y; Bhandari, Vidata V; Chen, Gang G; Dang, Yiwu Y; Liao, Haixia H; Zhang, Jiapeng J; Lan, Dan D

Publication Date: 2019-04

Variant appearance in text: DMD: 10108C>T; Arg3370Ter

PubMed Link: 30816495

Variant Present in the following documents:

• Main text
• mmr-19-04-3035.pdf

View BVdb publication page

---

Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases

Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y

Publication Date: 2018-07-04

Variant appearance in text: DMD: 10108C>T; Arg3370*

PubMed Link: 29973226

Variant Present in the following documents:

• 13023_2018_853_MOESM1_ESM.pdf

View BVdb publication page

---

Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Circulation. Genomic And Precision Medicine

Yamamoto, Tetsushi T; Awano, Hiroyuki H; Zhang, Zhujun Z; Sakuma, Mio M; Kitaaki, Shoko S; Matsumoto, Masaaki M; Nagai, Masashi M; Sato, Itsuko I; Imanishi, Takamitsu T; Hayashi, Nobuhide N; Matsuo, Masafumi M; Iijima, Kazumoto K; Saegusa, Jun J

Publication Date: 2018-01

Variant appearance in text: DMD: 10108C>T

PubMed Link: 29874176

Variant Present in the following documents:

• hcg-11-e001782-s001.pdf

View BVdb publication page

---

A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Journal Of Clinical Laboratory Analysis

Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J

Publication Date: 2018-09

Variant appearance in text: DMD: 10108C>T; Arg3370X

PubMed Link: 29604111

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: DMD: 10108C>T; Arg3370Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Orphanet Journal Of Rare Diseases

Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y

Publication Date: 2015-01-23

Variant appearance in text: DMD: 10108C>T; Arg3370X

PubMed Link: 25612904

Variant Present in the following documents:

• Main text
• 13023_2014_Article_220.pdf

View BVdb publication page

---

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.

European Journal Of Human Genetics : Ejhg

Wei, Xiaoming X; Dai, Yi Y; Yu, Ping P; Qu, Ning N; Lan, Zhangzhang Z; Hong, Xiafei X; Sun, Yan Y; Yang, Guanghui G; Xie, Shuqi S; Shi, Quan Q; Zhou, Hanlin H; Zhu, Qian Q; Chu, Yuxing Y; Yao, Fengxia F; Wang, Jinming J; He, Jingni J; Yang, Yun Y; Liang, Yu Y; Yang, Yi Y; Qi, Ming M; Yang, Ling L; Wang, Wei W; Wu, Haitao H; Duan, Jing J; Shen, Cheng C; Wang, Jun J; Cui, Liying L; Yi, Xin X

Publication Date: 2014-01

Variant appearance in text: DMD: 10108C>T; Arg3370X

PubMed Link: 23756440

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Bmc Medical Genetics

Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP

Publication Date: 2011-03-11

Variant appearance in text: DMD: 10108C>T; Arg3370X

PubMed Link: 21396098

Variant Present in the following documents:

• Main text
• 1471-2350-12-37.pdf

View BVdb publication page

---

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd

Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2010-01

Variant appearance in text: DMD: 10108C>T; R3370X

PubMed Link: 19959795

Variant Present in the following documents:

• Main text

View BVdb publication page

---