Diagnosis and Management of the Antiphospholipid Syndrome
BMJ 340:1125-1132, Cohen,D., et al, 2010
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Paraneoplastic Neurological Syndromes
Clin Exp Immunol 175:336-348, Leypoldt, F. & Wandinger, K.-P., 2014
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
Autoimmune Epilepsy
Arch Neurol 69:582-593,565, Quek, A.M.L.,et al, 2012
Contemporary management and recent advances in paediatric hydrocephalus
BMJ 343:d4191, Kandasamy, J.,et al, 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
BMJ 339:706-707, Ong,A., 2009
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006