Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Posterior Cerebral Artery Syndromes
, Caplan,L.R. &Bogousslavsky,J., 1998
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Brainstem Tumors in Patients with Neurofibromatosis Type 1:A Distinct Clinical Entity
Neurol 45:1897-1902, Molloy,P.T.,et al, 1995
Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
Arch Neurol 44:365-370, Starosta-Rubinstein,S.,et al, 1987
Wernekinck Commissure Syndrome
Radiopaedia doi.org/10.53347/rlD-85274, Aug, Deng,F.,et al, 2023
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Metabolic Abnormalities in Development Dyslexia Detected by 1H Magnetic Resonance Spectroscopy
Lancet 351:1849-1852, Rae,C.,et al, 1998
Neurologic and Cognitive Deficits in Children with Cystinosis
J Pediatr 112:912-914, Trauner,D.A.,et al, 1988
Carbamazepine Side Effects in Children and Adults
Pellock. J. M. , Epilepsia 28:S64-S707., , 1987