Publications:

Computational cognitive modeling and validation of Dp140 induced alteration of working memory in Duchenne Muscular Dystrophy.

Scientific Reports

Tyagi, Rahul R; Aggarwal, Palvi P; Mohanty, Manju M; Dutt, Varun V; Anand, Akshay A

Publication Date: 2020-07-20

Variant appearance in text: DMD: 9711_9713del

PubMed Link: 32686699

Variant Present in the following documents:

• Main text
• 41598_2020_Article_68381.pdf

View BVdb publication page

Dysfunction of 67-kDa Laminin Receptor Disrupts BBB Integrity via Impaired Dystrophin/AQP4 Complex and p38 MAPK/VEGF Activation Following Status Epilepticus.

Frontiers In Cellular Neuroscience

Park, Hana H; Choi, Seo-Hyeon SH; Kong, Min-Jeong MJ; Kang, Tae-Cheon TC

Publication Date: 2019

Variant appearance in text: DMD: 9711_9713del

PubMed Link: 31178701

Variant Present in the following documents:

• fncel-13-00236.pdf

View BVdb publication page

The clinical significance of small copy number variants in neurodevelopmental disorders.

Journal Of Medical Genetics

Asadollahi, Reza R; Oneda, Beatrice B; Joset, Pascal P; Azzarello-Burri, Silvia S; Bartholdi, Deborah D; Steindl, Katharina K; Vincent, Marie M; Cobilanschi, Joana J; Sticht, Heinrich H; Baldinger, Rosa R; Reissmann, Regina R; Sudholt, Irene I; Thiel, Christian T CT; Ekici, Arif B AB; Reis, André A; Bijlsma, Emilia K EK; Andrieux, Joris J; Dieux, Anne A; FitzPatrick, David D; Ritter, Susanne S; Baumer, Alessandra A; Latal, Beatrice B; Plecko, Barbara B; Jenni, Oskar G OG; Rauch, Anita A

Publication Date: 2014-10

Variant appearance in text: DMD: 9711_9713del

PubMed Link: 25106414

Variant Present in the following documents:

• jmedgenet-2014-102588.pdf

View BVdb publication page

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

European Journal Of Human Genetics : Ejhg

de Brouwer, Arjan P M AP; Nabuurs, Sander B SB; Verhaart, Ingrid E C IE; Oudakker, Astrid R AR; Hordijk, Roel R; Yntema, Helger G HG; Hordijk-Hos, Jannet M JM; Voesenek, Krysta K; de Vries, Bert B A BB; van Essen, Ton T; Chen, Wei W; Hu, Hao H; Chelly, Jamel J; den Dunnen, Johan T JT; Kalscheuer, Vera M VM; Aartsma-Rus, Annemieke M AM; Hamel, Ben C J BC; van Bokhoven, Hans H; Kleefstra, Tjitske T

Publication Date: 2014-04

Variant appearance in text: DMD: 9711_9713del

PubMed Link: 23900271

Variant Present in the following documents:

• Main text

View BVdb publication page