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Anirban Majumdar

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
2012 · V. Ricotti, D. A. Ridout, et al. · Journal of Neurology Neurosurgery & Psychiatry · 263
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
2010 · Fatemeh Geranmayeh, Emma Clement, et al. · Neuromuscular Disorders · 198
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
2020 · Carolina Uggenti, Alice Lepelley, et al. · Nature Genetics · 192
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
2020 · Ana Töpf, Katherine Johnson, et al. · Genetics in Medicine · 104
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Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy
2022 · Jean K. Mah, Paula R. Clemens, et al. · JAMA Network Open · 95
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Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies
2013 · Ann E. Davidson, Fazeel M. Siddiqui, et al. · Brain · 61
Men with Duchenne muscular dystrophy and end of life planning
2016 · David Abbott, Helen Prescott, et al. · Neuromuscular Disorders · 54
Cluster headache in children – Experience from a specialist headache clinic
2008 · A. Majumdar, M.A.S. Ahmed, et al. · European Journal of Paediatric Neurology · 46
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom
2023 · Vasantha Gowda, Mark Atherton, et al. · The Lancet Regional Health - Europe · 44
Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
2019 · Samantha J. Bryen, Lisa J. Ewans, et al. · Human Mutation · 42
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RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood
2021 · Sara Zagaglia, Dora Steel, et al. · Neurology · 33
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Caregiver's perception of epilepsy treatment, quality of life and comorbidities in an international cohort of CDKL5 patients.
2017 · S Amin, A Majumdar, et al. · PubMed · 29
Growth pattern trajectories in boys with Duchenne muscular dystrophy
2022 · Georgia Stimpson, Sarah Raquq, et al. · Orphanet Journal of Rare Diseases · 28
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Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy
2018 · KJ Low, K Stals, et al. · European Journal of Human Genetics · 26
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Delayed and severe but transient Tourette syndrome after head injury
2002 · Anirban Majumdar, Richard E Appleton · Pediatric Neurology · 24
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
2023 · Safoora B Syeda, Museer A Lone, et al. · Journal of Neurology Neurosurgery & Psychiatry · 23
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COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers
2012 · Anna Pichiecchio, Roberta La Piana, et al. · Neuropediatrics · 21
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
2023 · Bettina C Henzi, Simone Schmidt, et al. · The Lancet Neurology · 19
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Palatal tremor in childhood: clinical and therapeutic considerations
2006 · J Campistol-Plana, A Majumdar, et al. · Developmental Medicine & Child Neurology · 19
A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission
2004 · A. Majumdar, L. Hartley, et al. · Neuromuscular Disorders · 19
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase ( GARS ) Variants
2020 · Natalie Forrester, Rohini Rattihalli, et al. · Journal of Neuromuscular Diseases · 18
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain
2024 · Nikki Cornell, Anne-Marie Childs, et al. · Journal of Neuromuscular Diseases · 15
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Syndrome of fixed dystonia in adolescents – Short term outcome in 4 cases
2008 · Anirban Majumdar, Jesús López-Casas, et al. · European Journal of Paediatric Neurology · 15
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
2019 · Shpresa Pula, Kathryn Urankar, et al. · Neuromuscular Disorders · 10
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model
2022 · Silvia Beatriz Sanchez Marco, Edgar Buhl, et al. · Clinical Genetics · 9
Works count: 65
Citation count: 1,435
H-index: 19
I10-index: 24
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