A

Researcher Profile

Adnan Manzur

3

Publications

225

Citations

10

Co-Authors

3

Active Years

Publications

Open Access Journal Article The American Journal of Human Genetics Aug 01, 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole · Stephanie Efthymiou · Emer O’Connor · Marisa I. Mendes +88 more

10.1016/j.ajhg.2020.06.016 54 citations

Journal Article Journal of Neurology, Neurosurgery &amp; Psychiatry Feb 03, 2018

Mobility shift of beta-dystroglycan as a marker ofGMPPBgene-related muscular dystrophy

Anna Sarkozy · Silvia Torelli · Rachael Mein · Matt Henderson +28 more

10.1136/jnnp-2017-316956 17 citations

Journal Article Physiotherapy Research International Sep 23, 2011

Development of a Functional Assessment Scale for Ambulatory Boys with Duchenne Muscular Dystrophy

Elaine Scott · Michelle Eagle · Anna Mayhew · Jenny Freeman +4 more

10.1002/pri.520 154 citations

Publication Timeline

2020

1

2018

1

2011

1

Frequent Co-Authors

Francesco Muntoni

Anne Marie Jelsig

Justyna Iwaszkiewicz

Alkyoni Athanasiou-Fragkouli

Lindsay B. Henderson