Publications:

---

Duchenne Muscular Dystrophy Presenting as Incidental Hyper-Transaminasasemia in a Two-Month-Old Male.

Cureus

Chibuzo, Uzoego N UN; Bruman, Madeline M; Holguin, Ariela A; Bangaru, Babu B

Publication Date: 2023-02

Variant appearance in text: DMD: 9100C>T

PubMed Link: 37007358

Variant Present in the following documents:

• Main text
• cureus-0015-00000035498.pdf

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: DMD: 9100C>T; Arg3034Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: R3034X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

View BVdb publication page

---

Genotype-Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.

Journal Of Personalized Medicine

Lim, Kenji Rowel Q KRQ; Nguyen, Quynh Q; Yokota, Toshifumi T

Publication Date: 2020-11-23

Variant appearance in text: DMD: 9100C>T

PubMed Link: 33238405

Variant Present in the following documents:

• Main text
• jpm-10-00241.pdf

View BVdb publication page

---

46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China.

Frontiers In Genetics

Deng, Jianlian J; Zhang, Haoqing H; Li, Caiyun C; Huang, Hui H; Liu, Saijun S; Yang, Huanming H; Xie, Kaili K; Wang, Qiong Q; Lei, Dongzhu D; Wu, Jing J

Publication Date: 2019

Variant appearance in text: DMD: 9100C>T; Arg3034Ter

PubMed Link: 32153624

Variant Present in the following documents:

• Main text
• fgene-10-01350.pdf

View BVdb publication page

---

Corrigendum: Off-Label Use of Ataluren in Four Non-ambulatory Patients With Duchenne Muscular Dystrophy: Effects on Cardiac and Pulmonary Function and Muscle Strength.

Frontiers In Pediatrics

Ebrahimi-Fakhari, Daniel D; Dillmann, Ulrich U; Flotats-Bastardas, Marina M; Poryo, Martin M; Abdul-Khaliq, Hashim H; Shamdeen, Mohammed Ghiath MG; Mischo, Bernhard B; Zemlin, Michael M; Meyer, Sascha S

Publication Date: 2019

Variant appearance in text: DMD: 9100C>T

PubMed Link: 31404150

Variant Present in the following documents:

• fped-07-00284.pdf

View BVdb publication page

---

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Frontiers In Genetics

Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y

Publication Date: 2019

Variant appearance in text: DMD: 9100C>T

PubMed Link: 30833962

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fgene-10-00114.pdf

View BVdb publication page

---

Off-Label Use of Ataluren in Four Non-ambulatory Patients With Nonsense Mutation Duchenne Muscular Dystrophy: Effects on Cardiac and Pulmonary Function and Muscle Strength.

Frontiers In Pediatrics

Ebrahimi-Fakhari, Daniel D; Dillmann, Ulrich U; Flotats-Bastardas, Marina M; Poryo, Martin M; Abdul-Khaliq, Hashim H; Shamdeen, Mohammed Ghiath MG; Mischo, Bernhard B; Zemlin, Michael M; Meyer, Sascha S

Publication Date: 2018

Variant appearance in text: DMD: 9100C>T

PubMed Link: 30406066

Variant Present in the following documents:

• Main text
• fped-06-00316.pdf

View BVdb publication page

---

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

Plos One

Finkel, Richard S RS; Flanigan, Kevin M KM; Wong, Brenda B; Bönnemann, Carsten C; Sampson, Jacinda J; Sweeney, H Lee HL; Reha, Allen A; Northcutt, Valerie J VJ; Elfring, Gary G; Barth, Jay J; Peltz, Stuart W SW

Publication Date: 2013

Variant appearance in text: DMD: R3034X

PubMed Link: 24349052

Variant Present in the following documents:

• Main text
• pone.0081302.pdf

View BVdb publication page

---

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 9100C>T; Arg3034X

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

View BVdb publication page

---

MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy.

Neuromuscular Disorders : Nmd

Forbes, Sean C SC; Lott, Donovan J DJ; Finkel, Richard S RS; Senesac, Claudia C; Byrne, Barry J BJ; Sweeney, H Lee HL; Walter, Glenn A GA; Vandenborne, Krista K

Publication Date: 2012-10-01

Variant appearance in text: DMD: 9100C>T; Arg3034X

PubMed Link: 22980762

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: 9100C>T; Arg3034X

PubMed Link: 21396098

Variant Present in the following documents:

• Main text
• 1471-2350-12-37.pdf

View BVdb publication page

---

Clinical and genetic characterization of manifesting carriers of DMD mutations.

Neuromuscular Disorders : Nmd

Soltanzadeh, Payam P; Friez, Michael J MJ; Dunn, Diane D; von Niederhausern, Andrew A; Gurvich, Olga L OL; Swoboda, Kathryn J KJ; Sampson, Jacinda B JB; Pestronk, Alan A; Connolly, Anne M AM; Florence, Julaine M JM; Finkel, Richard S RS; Bönnemann, Carsten G CG; Medne, Livija L; Mendell, Jerry R JR; Mathews, Katherine D KD; Wong, Brenda L BL; Sussman, Michael D MD; Zonana, Jonathan J; Kovak, Karen K; Gospe, Sidney M SM; Gappmaier, Eduard E; Taylor, Laura E LE; Howard, Michael T MT; Weiss, Robert B RB; Flanigan, Kevin M KM

Publication Date: 2010-08

Variant appearance in text: DMD: Arg3034X

PubMed Link: 20630757

Variant Present in the following documents:

• Main text

View BVdb publication page

---