Institute of Clinical Neurosciences (ICN)

Research Output

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Conference Contribution (Conference Proceeding)
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 proceedingConference 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 proceedingConference 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 proceedingConference 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 proceedingConference Contribution (Conference Proceeding)

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 proceedingConference 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 proceedingConference 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 proceedingConference 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 proceedingConference 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 proceedingConference 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 proceedingConference 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 proceedingConference 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 proceedingConference 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 proceedingConference 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 proceedingConference 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 proceedingConference Contribution (Conference Proceeding)

2013

Central nervous system vasculitis

Rice, C. M., May 2013, Clinical Neuropathology. 3 ed. Vol. 32. p. 196-205

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

SIRT3 expression is reduced in non-lesional grey matter in multiple sclerosis

Rice, C. M., Gray, E., Hares, K. M., Kemp, K. C., Sun, M., Ginty, M., Barizien, S., Wilkins, A. & Scolding, N. J., 2013, Neuropathology and Applied Neurobiology. S1 ed. Vol. 39. p. 7-26

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

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 proceedingConference Contribution (Conference Proceeding)

Information Factsheet for Organ Donation and Neuromuscular Conditions

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

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

2010

Brain biopsy in neurological disease

Rice, CM., Gilkes, CE., Teare, E., Hardie, RJ., Scolding, NJ. & Edwards, RJ., 2010, Journal of Neurology, Neurosurgery and Neuropsychiatry. Vol. 81(10). p. 81(10):e17

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

2009

Brain biopsy in non-neoplastic neurological disease

Gilkes, CE., Rice, CM., Tidgell, E., Hardie, RJ. & Edwards, RJ., 2009, Society of British Neurosurgeons, Dublin. Vol. 23(5). p. 468 - 490

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