Dr Anirban Majumdar

Search results

• 2022

  Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model

  Sanchez Marco, S. B., Buhl, E., Firth, R., Zhu, B., Gainsborough, M., Beleza-Meireles, A., Moore, S., Caswell, R., Stals, K., Ellard, S., Kennedy, C., Hodge, J. J. L. & Majumdar, A., 1 Nov 2022, In: Clinical Genetics. 102, 6, p. 494-502 9 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  Open Access

  File

  • Genetics 100%
  • Exome Sequencing 100%
  • Spastic Diplegia 100%
  • DeJerine-Sottas Disease 100%
  • Adducin 100%
  5 Citations (Scopus)

  103 Downloads (Pure)
• 2020

  A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency

  Pula, S., Urankar, K., Norman, A., Pierre, G., Langton-Hewer, S., Selby, V., Mason, F., Vijayakumar, K., McFarland, R., Taylor, R. W. & Majumdar, A., Feb 2020, In: Neuromuscular Disorders. 30, 2, p. 159-164 6 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Muscle Disorder 100%
  • NADH Dehydrogenase (Ubiquinone) 100%
  • Electron Transport Chain 75%
  • Hypotonia 25%
  • Nicotinamide Adenine Dinucleotide 25%
  6 Citations (Scopus)

• cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

  Uggenti, C., Lepelley, A., Depp, M., Badrock, A. P., Rodero, M. P., El-Daher, M.-T., Rice, G. I., Dhir, S., Wheeler, A. P., Dhir, A., Albawardi, W., Frémond, M.-L., Seabra, L., Doig, J., Blair, N., Martin-Niclos, M. J., Della Mina, E., Rubio-Roldán, A., García-Pérez, J. L. & Sproul, D. & 36 others, Rehwinkel, J., Hertzog, J., Boland-Auge, A., Olaso, R., Deleuze, J.-F., Baruteau, J., Brochard, K., Buckley, J., Cavallera, V., Cereda, C., De Waele, L. M. H., Dobbie, A., Doummar, D., Elmslie, F., Koch-Hogrebe, M., Kumar, R., Lamb, K., Livingston, J. H., Majumdar, A., Lorenço, C. M., Orcesi, S., Peudenier, S., Rostasy, K., Salmon, C. A., Scott, C., Tonduti, D., Touati, G., Valente, M., van der Linden, H., Van Esch, H., Vermelle, M., Webb, K., Jackson, A. P., Reijns, M. A. M., Gilbert, N. & Crow, Y. J., Dec 2020, In: Nature Genetics. 52, 12, p. 1364-1372 9 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Synthase 100%
  • Adenosine Monophosphate 100%
  • Cyclic Guanosine Monophosphate 100%
  • Precursor mRNA 100%
  • RNA Processing 100%
  121 Citations (Scopus)

• Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants

  Forrester, N., Rattihalli, R., Horvath, R., Maggi, L., Manzur, A., Fuller, G., Gutowski, N., Rankin, J., Dick, D., Buxton, C., Greenslade, M. & Majumdar, A., 20 Mar 2020, In: Journal of neuromuscular diseases. 7, 2, p. 137-143 7 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Genetics 100%
  • Transfer RNA 100%
  • Next Generation Sequencing 75%
  12 Citations (Scopus)

• Clinical presentation and proteomic signature of patients with TANGO2 mutations

  Mingirulli, N., Pyle, A., Hathazi, D., Alston, C. L., Kohlschmidt, N., O'Grady, G., Waddell, L., Evesson, F., Cooper, S. B. T., Turner, C., Duff, J., Topf, A., Yubero, D., Jou, C., Nascimento, A., Ortez, C., García-Cazorla, A., Gross, C., O'Callaghan, M. & Santra, S. & 23 others, Preece, M. A., Champion, M., Korenev, S., Chronopoulou, E., Anirban, M., Pierre, G., McArthur, D., Thompson, K., Navas, P., Ribes, A., Tort, F., Schlüter, A., Pujol, A., Montero, R., Sarquella, G., Lochmüller, H., Jiménez-Mallebrera, C., Taylor, R. W., Artuch, R., Kirschner, J., Grünert, S. C., Roos, A. & Horvath, R., 3 Mar 2020, In: Journal of Inherited Metabolic Disease. 43, 2, p. 297-308 12 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  Open Access

  File

  • Proteomics 100%
  • Electron Transport Chain 100%
  • Coenzyme Q10 66%
  • Enzyme 66%
  • Fibroblast 66%
  46 Citations (Scopus)

  132 Downloads (Pure)

• Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

  Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N. & Vissing, J. & 15 others, Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bönnemann, C. G., MacArthur, D. G., Davis, M. R. & Cooper, S. T., Feb 2020, In: Human Mutation. 41, 2, p. 403-411 9 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Exon 100%
  • Autosomal Recessive Inheritance 100%
  • Isoform 40%
  • RNA Sequence 40%
  • RNA 20%
  30 Citations (Scopus)
• 2018

  Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

  Low, K. J., Stals, K., Caswell, R., Wakeling, M., Clayton-Smith, J., Donaldson, A., Foulds, N., Norman, A., Splitt, M., Urankar, K., Vijayakumar, K., Majumdar, A., Study, D., Ellard, S. & Smithson, S. F., Jun 2018, In: European Journal of Human Genetics. 26, 6, p. 796-807 12 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  Open Access

  File

  • Genetics 100%
  • Missense 100%
  • Infancy 100%
  • Mental Retardation 50%
  • Genetic Counseling 50%
  18 Citations (Scopus)

  342 Downloads (Pure)

• Stoodley, N. and Majumdar, A. (2018), Pediatric Neuroradiology Clinical Practice Essentials: Book review

  Majumdar, A. & Neil, S., 2018, Developmental Medicine and Child Neurology, p. 208.

  Research output: Contribution to specialist publication › Book/Film/Article review (Specialist Publication)
• 2017

  Caregiver's perception of epilepsy treatment, quality of life and comorbidities in an international cohort of CDKL5 patients

  Amin, S., Majumdar, A., Mallick, A. A., Patel, J., Scatchard, R., Partridge, C. A. & Lux, A., 1 Jul 2017, In: Hippokratia. 21, 3, p. 130-135 6 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Quality of Life 100%
  • Treatment of Epilepsy 100%
  • Vigabatrin 100%
  • Arrhythmia 100%
  • Ketogenic Diet 100%
  25 Citations (Scopus)

• Men with Duchenne muscular dystrophy and end of life planning

  Abbott, D. W. F., Prescott, H., Forbes, K., Fraser, J. & Majumdar, A., Jan 2017, In: Neuromuscular Disorders. 27, 1, p. 38 - 44 7 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  Open Access

  File

  • Clinician 100%
  • Duchenne Muscular Dystrophy 100%
  • End of Life Issues 20%
  37 Citations (Scopus)

  707 Downloads (Pure)
• 2016

  A novel homozygous frameshift deletion in the SH3TC2 gene in a patient with Charcot-Marie-Tooth (CMT) type 4C and severe ataxia

  Majumdar, A., 2016, World Muscle Society 2016.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• Bone health in steroid treated Duchenne Muscular Dystrophy: a regional case series from the Southwest of the UK

  Dawson, P., Burren, C., Majumdar, A. & Vijayakumar, K., 2016, World Muscle Society 2016.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• GARS mutation Genotype phenotype correlation

  Majumdar, A., Forrester, N., Greenslade, M., Buxton, C. & Norman, A., 2016, World Muscle Society 2016.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• Living Well with a Neuromuscular Disease- A newly established Course for patients and their families

  Ashworth, J., Doran, N., Burrows, E., Morgan, A., Majumdar, A. & Thomas-Unsworth, S., 2016, World Muscle Society 2016.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: Considerations for the design of clinical trials

  Ricotti, V., Ridout, D. A., Pane, M., Main, M., Mayhew, A., Mercuri, E., Manzur, A. Y., Muntoni, F., Robb, S., Quinlivan, R., Sarkozy, A., Butler, J., Bushby, K., Straub, V., Guglieri, M., Eagle, M., Roper, H., McMurchie, H., Childs, A. & Pysden, K. & 35 others, Pallant, L., Spinty, S., Peachey, G., Shillington, A., Wraige, E., Jungbluth, H., Sheehan, J., Spahr, R., Hughes, I., Bateman, E., Cammiss, C., Willis, T., Groves, L., Emery, N., Baxter, P., Senior, M., Scott, E., Hartley, L., Parsons, B., Majumdar, A., Jenkins, L., Toms, B., Naismith, K., Keddie, A., Horrocks, I., Di Marco, M., Chow, G., Miah, A., De Goede, C., Thomas, N., Geary, M., Palmer, J., White, C., Greenfield, K. & Wilson, I., 1 Feb 2016, In: Journal of Neurology, Neurosurgery, and Psychiatry. 87, 2, p. 149-155 7 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  Open Access

  File

  • Clinical Trial 100%
  • Duchenne Muscular Dystrophy 100%
  • Glucocorticoid 33%
  • Clinical Trial Design 16%
  • Disease 16%
  119 Citations (Scopus)

  339 Downloads (Pure)
• 2015

  A novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhidrosis (CIPA)

  Forrester, N., Burton-Jones, S., Antoniadi, T., Norman, A., Majumdar, A. & Vijayakumar, K., 2015, World Muscle Society 2015.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• An unusual association of a Pelizeus-Merzbacher (PZM) like phenotype with skeletal dysplasia.

  Majumdar, A., 2015, World Muscle Society 2015.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• Congenital myopathy, obesity, overgrowth, distinctive features and lymphoedema in a family. Chance association or unclassified syndrome

  Toms, B., Wragg, C., Lunt, P., Love, S., Vijayakumar, K. & Majumdar, A., 2015, World Muscle Society 2015.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• Musculoskeletal function in children with Barth Syndrome

  Toms, B., Jones, L., Goodman, D., Markham, L., Badger, S., Steward, C., Vijayakumar, K., Love, S. & Majumdar, A., 2015, World Muscle Society 2015.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• Survey of clinicians experience and attitudes regarding Spinal Muscular Atrophy with Respiratory Distress Syndrome Type 1 (SMARD1)

  Jerrom, T., Fraser, J., Siddharth, S. & Majumdar, A., 2015, World Muscle Society 2015.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)
• 2014

  A case of centronuclear myopathy, dysmorphisms, short stature, prominent cerebellar folia with mixed central and peripheral signs; can a multisystem condition with autophagy provide a unified explanation ?

  Majumdar, A., 2014, World Muscle Society 2014.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• A Case of Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting with neurological signs in a child

  Majumdar, A., 2014, World Muscle Society 2014.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• Ataxia, core myopathy, beta-ketothiolase deficiency, dentate nueclear abnormalities and learning difficulties in a pair of consanguineous siblings. A new association or double trouble?

  Majumdar, A., 2014, World Muscle Society 2014.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• Congenital myopathy, distinctive features and severe lymphoedema in a family – a new association?

  Love, S. & Majumdar, A., 2014, World Muscle Society 2014.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• Next Generation Sequencing reveals IGHMBP2 variants as a cause for distal hereditary motor neuronopathy in two children

  Majumdar, A., 2014, World Muscle Society 2014.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• The development and implementation of a Managed Clinical Neuromuscular Network in the Southwest of the United Kingdom. The first five years

  Majumdar, A., 2014, World Muscle Society 2014.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)
• 2013

  Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

  Davidson, A. E., Siddiqui, F. M., Lopez, M. A., Lunt, P., Carlson, H. A., Moore, B. E., Love, S., Born, D. E., Roper, H., Majumdar, A., Jayadev, S., Underhill, H. R., Smith, C. O., von der Hagen, M., Hubner, A., Jardine, P., Merrison, A., Curtis, E., Cullup, T. & Jungbluth, H. & 6 others, Cox, M. O., Winder, T. L., Abdel Salam, H., Li, J. Z., Moore, S. A. & Dowling, J. J., Feb 2013, In: Brain. 136, Pt 2, p. 508-21 14 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Genetics 100%
  • TPM2 100%
  • Tropomyosin 100%
  • Lysine 100%
  • Muscle Disorder 100%
  46 Citations (Scopus)
• 2012

  COL4A1-related disease: Raised creatine kinase and cerebral calcification as useful pointers

  Tonduti, D., Pichiecchio, A., La Piana, R., Livingston, J. H., Doherty, D. A., Majumdar, A., Tomkins, S., Mine, M., Ceroni, M., Ricca, I., Balottin, U. & Orcesi, S., 2012, In: Neuropediatrics. 43, 5, p. 283-288 6 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Creatine Kinase 100%
  21 Citations (Scopus)
• 2011

  A missense mutation in Mitofusin 2 (MFN2) causing early onset, progressive, axonal polyneuropathy (CMT2), optic atrophy and developmental delay in a child

  Hewawitharana, G. P., Antoniadi, T., Faulkner, C., Williams, M., Rankin, J. & Majumdar, A., 2011, World Muscle Society 2011.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• COL4A1 mutations associated with a characteristic pattern of intracranial calcification

  Livingston, J., Doherty, D., Orcesi, S., Tonduti, D., Piechiecchio, A., La Piana, R., Tournier-Lasserve, E., Majumdar, A., Tomkins, S., Rice, G., Kneen, R., Van Der Knaap, M. & Crow, Y., 2011, In: Neuropediatrics. 42, 6, p. 227-233 7 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Lateral Ventricle 100%
  • Basal Ganglia 100%
  • Magnetic Resonance Imaging 100%
  • Pons 100%
  • Neurological Disorder 100%
  38 Citations (Scopus)

• Information Factsheet for Organ Donation and Neuromuscular Conditions

  Smith, J. & Majumdar, A., 2011, World Muscle Society 2011.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)

• Inherited Peripheral Neuropathies: genetic testing in the diagnostic laboratory

  Antoniadi, T., Majumdar, A., Burton-Jones, S. & Williams, M., 2011, World Muscle Society 2011.

  Research output: Chapter in Book/Report/Conference proceeding › Conference Contribution (Conference Proceeding)
• 2010

  Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

  Geranmayeh, F., Clement, E., Feng, L. H., Sewry, C., Pagan, J., Mein, R., Abbs, S., Brueton, L., Childs, A. M., Jungbluth, H., De Goede, C. G., Lynch, B., Lin, J. P., Chow, G., Sousa, C. D., O'Mahony, O., Majumdar, A., Straub, V., Bushby, K. & Muntoni, F., Apr 2010, In: Neuromuscular Disorders. 20, 4, p. 241-250 10 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Walking 9%
  • Genotype 7%
  162 Citations (Scopus)
• 2009

  Cluster headache in children - Experience from a specialist headache clinic

  Majumdar, A., Ahmed, M. A. S. & Benton, S., Nov 2009, In: European Journal of Paediatric Neurology. 13, 6, p. 524-529 6 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Hospital 100%
  • Cluster Headache 100%
  • Headache 100%
  • Tylenol 33%
  • Disease 33%
  33 Citations (Scopus)

• Syndrome of fixed dystonia in adolescents--short term outcome in 4 cases

  Majumdar, A., López-Casas, J., Poo, P., Colomer, J., Galvan, M., Lingappa, L., Short, C., Jardine, P. E. & Fernández-Alvarez, E., Sept 2009, In: European Journal of Paediatric Neurology. 13, 5, p. 466-72 7 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Dystonia 100%
  • Adolescence 100%
  • Physiotherapy 28%
  • Diseases 14%
  • Clinical Feature 14%
  11 Citations (Scopus)
• 2006

  Palatal tremor in childhood: clinical and therapeutic considerations

  Campistol-Plana, J., Majumdar, A. & Fernández-Alvarez, E., Dec 2006, In: Developmental Medicine and Child Neurology. 48, 12, p. 982-4 3 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Piracetam 100%
  • Onset Age 16%
  19 Citations (Scopus)
• 2004

  A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission

  Majumdar, A., Hartley, L., Manzur, A. Y., King, R. H. M., Orrell, R. W. & Muntoni, F., Dec 2004, In: Neuromuscular Disorders. 14, 12, p. 818-21 4 p.

  Research output: Contribution to journal › Article (Academic Journal) › peer-review

  • Spontaneous Remission 100%
  • Leg 100%
  • Weakness 100%
  • Chronic Inflammatory Demyelinating Polyneuropathy 100%
  • Neonates 50%
  20 Citations (Scopus)