A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
Spinal Cord Involvement in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
JAMA Neurol 77:1169-1170, Li, S.,et al, 2020
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018
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
Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
Neurol 87:579-584, Berkovic, S.F.,et al, 2016
Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 971, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 973, Ropper, A.H.,et al, 2014
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
Lancet 374:1986-1996, 1950, Mehta,A.,et al, 2009
Sporadic Adult-Onset Leukoencephalopathy with Neuroaxonal Spheroids Mimicking Cerebral MS
Neurol 70:1128-1133, Keegan,B.M.,et al, 2008
Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
What Do We Really See When We Look at Magnetic Resonance Images?
Ann Neurol 62:207-208, Filippi,M. &Hartung,H.-P., 2007
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006
CT and MR Imaging of Neuroaxonal Leukodystrophy Presenting as Early-Onset Frontal Dementia
AJNR 27:1037-1039, Mascalchi,M.,et al, 2006
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Diffusion-Weighted and Conventional MR Imaging Findings of Neuroaxonal Dystrophy
AJNR 25:1269-1273, Sener,R.N., 2004
Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
MR Brain Imaging of Fucosidosis Type I
AJNR 22:777-780, Galluzzi,P.,et al, 2001
Enzyme Replacement Therapy in Fabry Disease
JAMA 285:2743-2749, Schiffmann,R.,et al, 2001
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids
Neurol 54:463-468, van der Knaap,M.S.,et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
A New Metabolite Contributing to N-Acetyl Signal in 1H MRS of the Brain in Salla Disease
Neurol 52:1668-1672, Varho,T.,et al, 1999
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
AJNR 19:1628-1630, Chen,C-Y.,et al, 1998
Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Axonal Transection in the Lesions of Multiple Sclerosis
NEJM 338:278-285, 3231998., Trapp,B.D.,et al, 1998
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
Guillain-Barre Syndrome after Exogenous Gangliosides in Italy
BMJ 307:1463-1464, Landi,G.,et al, 1993
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992