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Author/Creator Majumdar, Anirban

5. Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model. Issue 6 (18th September 2022)

Authors:
Sanchez Marco, Silvia Beatriz; Buhl, Edgar; Firth, Rose; Zhu, Bangfu; Gainsborough, Mary; Beleza‐Meireles, Ana; Moore, Sandra; Caswell, Richard; Stals, Karen; Ellard, Sian; Kennedy, Cameron; Hodge, James J. L.; Majumdar, Anirban
Journal:
Clinical genetics
Issue:
Volume 102:Issue 6(2022)
Page Start:
494
Record Type:
Journal Article
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8. Real-world experience of gene therapy with onasemnogene-abeparvovec (Zolgensma®) for patients with SMA-type1 in UK. Issue 9 (12th August 2022)

Authors:
Gowda, Vasantha; Wraige, Elizabeth; Ong, Min; Atherton, Mark; Majumdar, Anirban; Marco, Silvia Sanchez; Hughes, Imelda; Mccullagh, Gary; Muntoni, Francesco; Jungbluth, Heinz
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 93:Issue 9(2022)
Page Start:
e2
Record Type:
Journal Article
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9. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Issue 2 (3rd December 2019)

Authors:
Bryen, Samantha J.; Ewans, Lisa J.; Pinner, Jason; MacLennan, Suzanna C.; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R.; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M.; Hu, Ying; Grosmann, Carla; Malicki, Denise M.; Doyle...
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
403
Record Type:
Journal Article
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10. RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood. (16th March 2021)

Authors:
Zagaglia, Sara; Steel, Dora; Krithika, S.; Hernandez-Hernandez, Laura; Custodio, Helena Martins; Gorman, Kathleen M.; Vezyroglou, Aikaterini; Møller, Rikke S.; King, Mary D.; Hammer, Trine Bjørg; Spaull, Robert; Fazeli, Walid; Bartolomaeus, Tobias; Doummar, Diane; Keren, Boris; Mignot, Cyril; Bed...
Journal:
Neurology
Issue:
Volume 96:Number 11(2021)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗