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Meyer, Esther; Kurian, Manju A.; Hayflick, Susan J.

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms

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Annual Reviews, 2015

Published in: Annual Review of Genomics and Human Genetics, 16 (2015) 1, Seite 257-279
Kurian, Manju; Nair, Divya S.; Rahnamol, A. M.

Influence of the synthesis conditions on the catalytic efficiency of NiFe2O4 and ZnFe2O4 nanoparticles towards the wet peroxide oxidation of 4-chlorophenol

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Springer Science and Business Media LLC, 2014

Published in: Reaction Kinetics, Mechanisms and Catalysis, 111 (2014) 2, Seite 591-604
Chu, Wing Sum; Ng, Joanne; Waddington, Simon N.; Kurian, Manju A.

Gene therapy for neurotransmitter‐related disorders

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Wiley, 2024

Published in: Journal of Inherited Metabolic Disease, 47 (2024) 1, Seite 176-191
Thöny, Beat; Ng, Joanne; Kurian, Manju A.; Mills, Philippa; Martinez, Aurora

Mouse models for inherited monoamine neurotransmitter disorders

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Wiley, 2024

Published in: Journal of Inherited Metabolic Disease, 47 (2024) 3, Seite 533-550
Papandreou, Apostolos; Luft, Christin; Barral, Serena; Kriston-Vizi, Janos; Kurian, Manju A; Ketteler, Robin

Automated high-content imaging in iPSC-derived neuronal progenitors

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Elsevier BV, 2023

Published in: SLAS Discovery, 28 (2023) 2, Seite 42-51
Cif, Laura; Demailly, Diane; Vasques, Xavier; Verbizier, Delphine de; Coubes, Philippe; Gorman, Kathleen; Kurian, Manju A.

Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in DYT‐KMT2B Patients with Evidence of Striatonigral Degeneration

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Wiley, 2022

Published in: Movement Disorders Clinical Practice, 9 (2022) 7, Seite 992-996
Spaull, Robert; Steel, Dora; Barwick, Katy; Prabhakar, Prab; Wakeling, Emma; Kurian, Manju A.

STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy

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Wiley, 2022

Published in: Movement Disorders Clinical Practice, 9 (2022) 6, Seite 837-840
McTague, Amy; Rossignoli, Giada; Ferrini, Arianna; Barral, Serena; Kurian, Manju A.

Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies

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Frontiers Media SA, 2021

Published in: Frontiers in Genome Editing, 3 (2021)
Monfrini, Edoardo; Zech, Michael; Steel, Dora; Kurian, Manju A; Winkelmann, Juliane; Di Fonzo, Alessio

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia

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Oxford University Press (OUP), 2021

Published in: Brain, 144 (2021) 9, Seite 2610-2615
Spaull, Robert V.V.; Soo, Audrey K.S.; Hogarth, Penelope; Hayflick, Susan J.; Kurian, Manju A.

Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation

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Ubiquity Press, Ltd., 2021

Published in: Tremor and Other Hyperkinetic Movements, 11 (2021) 1
Papandreou, Apostolos; Danti, Federica Rachele; Spaull, Robert; Leuzzi, Vincenzo; Mctague, Amy; Kurian, Manju A

The expanding spectrum of movement disorders in genetic epilepsies

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Wiley, 2020

Published in: Developmental Medicine & Child Neurology, 62 (2020) 2, Seite 178-191
Crisp, Sarah; Meyer, Esther; Gregory, Allison; Archer, Hayley; Hayflick, Susan; Kurian, Manju A; de Silva, Rajith

A RETT-LOOK-ALIKE WITH BRAIN IRON ACCUMULATION

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BMJ, 2013

Published in: Journal of Neurology, Neurosurgery & Psychiatry, 84 (2013) 11, Seite e2.154-e2
KURIAN, MANJU A; MCNEILL, ALASDAIR; LIN, JEAN-PIERRE; MAHER, EAMONN R

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA)

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Wiley, 2011

Published in: Developmental Medicine & Child Neurology, 53 (2011) 5, Seite 394-404
Duff, Claire; Islam, Madeha; Gagliano, Onelia; Pramod, Hema; Rashidi, Hassan; Kurian, Manju A.; Gissen, Paul; Baruteau, Julien

Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G A (p.Arg146Gln) mutation

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Elsevier BV, 2024

Published in: Stem Cell Research, 76 (2024), Seite 103365
Steel, Dora; Vezyroglou, Aikaterini; Barwick, Katy; Smith, Martin; Vogt, Julie; Gibbon, Frances M.; Cross, J. Helen; Kurian, Manju A.

Both Heterozygous and Homozygous Loss‐of‐Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder

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Wiley, 2023

Published in: Movement Disorders, 38 (2023) 1, Seite 155-157
Steel, Dora; Heim, Jennifer; Kruer, Michael C.; Sanchis‐Juan, Alba; Raymond, Lucy F.; Eunson, Paul; Kurian, Manju A.

Biallelic Mutations of TBC1D24 in Exercise‐Induced Paroxysmal Dystonia

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Wiley, 2020

Published in: Movement Disorders, 35 (2020) 2, Seite 372-373
Erro, Roberto; Balint, Bettina; Kurian, Manju A.; Brugger, Florian; Picillo, Marina; Barone, Paolo; Bhatia, Kailash P.; Pellecchia, Maria Teresa

Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes

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Wiley, 2017

Published in: Movement Disorders Clinical Practice, 4 (2017) 1, Seite 125-128
Peall, Kathryn J.; Ng, Joanne; Dy, Marisela E.; Sharma, Nutan; Pope, Simon; Heales, Simon; Friedman, Jennifer R.; Kurian, Manju A.

Low CSF 5‐HIAA in Myoclonus Dystonia

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Wiley, 2017

Published in: Movement Disorders, 32 (2017) 11, Seite 1647-1649
Papandreou, Apostolos; McTague, Amy; Trump, Natalie; Ambegaonkar, Gautam; Ngoh, Adeline; Meyer, Esther; Scott, Richard H; Kurian, Manju A

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

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Wiley, 2016

Published in: Developmental Medicine & Child Neurology, 58 (2016) 4, Seite 416-420
Crisp, Sarah J.; Meyer, Esther; Gregory, Allison; Archer, Hayley; Hayflick, Susan; Kurian, Manju A.; de Silva, Rajith

WDR45 Mutation in Atypical Rett Syndrome with Brain Iron Accumulation

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Wiley, 2015

Published in: Movement Disorders Clinical Practice, 2 (2015) 1, Seite 81-83

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