Manzur, Adnan Y
University College London
5 papers on CoChat
Most cited papers
- Verified
Corticosteroids for the treatment of Duchenne muscular dystrophy
Matthews, E., Brassington, R., Kuntzer, T., Jichi, F., & Manzur, A. Y. (2016) · Cochrane Database of Systematic Reviews
Muscle Physiology and DisordersNeurogenetic and Muscular Disorders Research
Cited by 493
- Verified
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., et al. (2007) · Brain
Muscle Physiology and DisordersGlycosylation and Glycoproteins Research
Cited by 441
- Verified
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Rodríguez Cruz, P. M., Cossins, J., de Paula Estephan, E., Munell, F., Selby, K., Hirano, M., Maroofin, R., Mehrjardi, M. Y. V., Chow, G., Carr, A., et al. (2019) · Brain
Myasthenia Gravis and ThymomaMuscle Physiology and Disorders
Cited by 51
- Verified
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics
Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Cited by 41
- Verified
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy
O’Connor, E., Vandrovcova, J., Bugiardini, E., Chelban, V., Manole, A., Davagnanam, I., Wiethoff, S., Pittman, A., Lynch, D. S., Efthymiou, S., et al. (2018) · Journal of Neurology, Neurosurgery & Psychiatry
Genetic Neurodegenerative DiseasesHereditary Neurological Disorders
Cited by 29
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