24 August 2023
Professor Jeanette Lechner-Scott - Staff Specialist Neurologist, MS Clinic Lead
Laureate Professor Rodney Scott - Director, Genetics, HAPS
Solomon AJ, Arrambide G, Brownlee WJ, Flanagan EP, Amato MP, Amezcua L, et al. Differential diagnosis of suspected multiple sclerosis: an updated consensus approach. Lancet Neurol. 2023 Aug;22(8):750-68. PubMed PMID: 37479377. eng.
Ahmed RM, Murphy E, Davagnanam I, Parton M, Schott JM, Mummery CJ, et al. A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):770-81. PubMed PMID: 24357685. Epub 20131219. eng.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, et al. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016 Sep 1;99(3):607-23. PubMed PMID: 27588448. PMCID: PMC5011077. eng.
Molinski SV, Gonska T, Huan LJ, Baskin B, Janahi IA, Ray PN, et al. Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention. Genet Med. 2014 Aug;16(8):625-32. PubMed PMID: 24556927. Epub 20140220. eng.
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