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Neuroscience

D-Index
67
Citations
13883
World Ranking
2915
National Ranking
283

Overview

Manju A. Kurian is affiliated with University College London in the United Kingdom. Their research spans biochemistry, genetics, molecular biology, and medicine, producing over 200 publications primarily focused on genetics and neurodevelopmental disorders as well as genomics and rare diseases.

Their main fields of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these fields, their work covers subfields such as:

  • Genetics
  • Molecular Biology
  • Neurology
  • Cellular and Molecular Neuroscience
  • Clinical Biochemistry

The principal research topics they address include:

  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Metabolism and Genetic Disorders
  • Genetic Neurodegenerative Diseases
  • Neurological disorders and treatments
  • Cellular transport and secretion
  • Amino Acid Enzymes and Metabolism

Manju A. Kurian has contributed recently to several papers, including:

  • Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies, 2020, Orphanet Journal of Rare Diseases
  • The role of manganese dysregulation in neurological disease: emerging evidence, 2021, The Lancet Neurology
  • Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities, 2020, Annals of Neurology
  • The dopamine transporter gene SLC6A3: multidisease risks, 2021, Molecular Psychiatry
  • On-demand cell-autonomous gene therapy for brain circuit disorders, 2022, Science

Frequent co-authors who have collaborated extensively with Manju A. Kurian include:

  • Dora Steel
  • Serena Barral
  • Roser Pons
  • Katy Barwick
  • Robert Spaull

The most common venues in which their work appears feature:

  • Movement Disorders
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Movement Disorders Clinical Practice
  • Journal of Inherited Metabolic Disease
  • Neurology

Best Publications

  • The genetic landscape of the epileptic encephalopathies of infancy and childhood

    Amy McTague;Amy McTague;Katherine B Howell;Katherine B Howell;J Helen Cross;J Helen Cross;Manju A Kurian;Manju A Kurian

  • The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

    Manju A Kurian;Manju A Kurian;Paul Gissen;Paul Gissen;Martin Smith;Simon Jr Heales

  • Whole-genome sequencing of patients with rare diseases in a national health system

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

    Tobias B. Haack;Penelope Hogarth;Michael C. Kruer;Allison Gregory

  • Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

    Karin Tuschl;Esther Meyer;Leonardo E Valdivia;Ningning Zhao

  • Monoamine neurotransmitter disorders—clinical advances and future perspectives

    Joanne Ng;Apostolos Papandreou;Simon J. Heales;Manju A. Kurian

  • Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

    Hilary C. Martin;Grace E. Kim;Alistair T. Pagnamenta;Alistair T. Pagnamenta;Yoshiko Murakami

  • Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

    Natalie Trump;Amy McTague;Helen Brittain;Apostolos Papandreou;Apostolos Papandreou

  • Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

    Susan J. Hayflick;Michael C. Kruer;Allison Gregory;Tobias B. Haack

  • Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)

    M. A. Kurian;N. V. Morgan;L. MacPherson;K. Foster

  • Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

    Manju A. Kurian;Juan Zhen;Shu-Yuan Cheng;Yan Li

  • Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Thaventhiran Jed.;H Lango Allen;O S Burren;W Rae

  • Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

    Esther Meyer;Keren J Carss;Keren J Carss;Julia Rankin;John M E Nichols

  • Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.

    Manju A. Kurian;Manju A. Kurian;Yan Li;Juan Zhen;Esther Meyer

  • Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    Tessa Wassenberg;Marta Molero-Luis;Kathrin Jeltsch;Georg F. Hoffmann

  • Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

    Sabrina Dusi;Lorella Valletta;Tobias B. Haack;Yugo Tsuchiya

  • PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

    Alice R. Gardiner;Kailash P. Bhatia;Maria Stamelou;Russell C. Dale

  • Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

    Danai Bem;Shin Ichiro Yoshimura;Ricardo Nunes-Bastos;Frances F. Bond

  • Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

    Joanne Ng;Joanne Ng;Juan Zhen;Esther Meyer;Kevin Erreger

  • The clinical and genetic heterogeneity of paroxysmal dyskinesias.

    Alice R. Gardiner;Fatima Jaffer;Russell C. Dale;Robyn Labrum

  • Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

    Tommy Stödberg;Amy McTague;Arnaud J. Ruiz;Hiromi Hirata

  • Neurodegeneration with brain iron accumulation.

    Unknown

Frequent Co-Authors

Eamonn R. Maher
Eamonn R. Maher University of Cambridge
Henry Houlden
Henry Houlden University College London
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Michael John Owen
Michael John Owen Cardiff University
J. Helen Cross
J. Helen Cross Great Ormond Street Hospital
Derek J. Blake
Derek J. Blake Cardiff University
Yanick J. Crow
Yanick J. Crow Université Paris Cité
Patrick F. Chinnery
Patrick F. Chinnery University of Cambridge
Nicholas W. Wood
Nicholas W. Wood University College London
Tobias B. Haack
Tobias B. Haack University of Tübingen

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