A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
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
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-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
Sporadic Adult-Onset Leukoencephalopathy with Neuroaxonal Spheroids Mimicking Cerebral MS
Neurol 70:1128-1133, Keegan,B.M.,et al, 2008
CT and MR Imaging of Neuroaxonal Leukodystrophy Presenting as Early-Onset Frontal Dementia
AJNR 27:1037-1039, Mascalchi,M.,et al, 2006
Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids
Neurol 54:463-468, van der Knaap,M.S.,et al, 2000
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
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
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
Evaluation of Cerebral Biopsies for the Diagnosis of Dementia
Arch Neurol 49:28-31, Hulette,C.M.,et al, 1992
Mineralization of the Basal Ganglia Detected by CT in Hallervorden-Spatz Syndrome
Neurol 38:154-155, Tennison,M.B.,et al, 1988
Adult Dystonic Lipidosis, Clin Histo & Biochem Findings of a Neurovisceral Storage Dis
Neurol 32:1295-1299, Longstreth,W.T.Jr.,et al, 1982
Neuroaxonal Dystrophy in Young Adults:A Clinicopathological Study of Two Unrelated Cases
Ann Neurol 11:335-343, Williamson,K.,et al, 1982
Computed Tomography in Cerebrotendinous Xanthomatosis
Neurol 31:1463-1465, Berginer,V.M.,et al, 1981
Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978
Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
Ann Neurol 3:419, Dorfman,L.J.,et al, 1978
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978