Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Contemporary management and recent advances in paediatric hydrocephalus
BMJ 343:d4191, Kandasamy, J.,et al, 2011
Unruptured Intracranial Aneurysms
NEJM 392:2357-2366, Ogilvy,C.S., 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Guidelines in Action: Worse Headache of Life...Yesterday
Stroke 54:e488-e491, Albin,C.S.W., 2023
Autoimmune Nodopathies, An Emerging Dignostic Category
Curr Opin Neurol 35:579-585, Martin-Agullar, L.,et al, 2022
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
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
Intracranial Dural Arteriovenous Fistulae
Stroke 46:2017-2025, Miller, T.R. & Gandhi, D., 2015
Paraneoplastic Neurological Syndromes
Clin Exp Immunol 175:336-348, Leypoldt, F. & Wandinger, K.-P., 2014
The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies
Medicine 92:223-243, Rider, L.,et al, 2013
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
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
Should we be nervous about coeliac disease? Brain abnormalities in patients with coeliac disease referred for neurologic opinion
JNNP 83:1216-1221, Currie, S.,et al, 2012
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Diagnosis and Management of the Antiphospholipid Syndrome
BMJ 340:1125-1132, Cohen,D., et al, 2010
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Association Between Migraine and Celiac Disease: Results From a Preliminary Case-Control and Therapeutic Study
, Gabrielli, M.,et al, 2003
Primary Aldosteronism
NEJM 339:1828-1834, Ganguly, A., 1998
Investigating suspected subarachnoid hemorrhage in adults
, Brown, S.C., et al,