A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Mucolipidosis Type IV; Characteristic MRI Findings
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Joubert Syndrome:A Clinico-Radiological Study
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
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Hallervorden-Spatz Syndrome:Clinical and Magnetic Resonance Imaging Correlations
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Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
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Neurological Involvement in the Epidermal Naevus Syndrome
JNNP 41:466, McAuley,D.L.,et al, 1978
Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978
Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
Neurol 88:1478-1479, Masson, R.,et al, 2017
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Paraneoplastic Syndromes Involving the Eyes
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981
Clinical Pathological Conference
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Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978
Tapetoretinal Degeneration in Childhood Presenting as a Disturbance of Behavior
BMJ 202, 1972 Jan., Harcourt,B.,et al, 1972