A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Glycogen-Storage Disease Type II
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JAMA 294:3131-3134, Moser,H.W.,et al, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
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
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Angelman Syndrome: Clinical Profile
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Hematologic Disorders and Ischemic Stroke
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Adrenoleukodystrophy
JAMA 262:1504-1506, Ladenson,P.W., 1989
Refsum Disease
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Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
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A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
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Phosphorylase Deficiency
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Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
Arch Neurol 42:757-758, Trauner,D.A., 1985
Adrenoleukodystrophy:Clinical & Biochemical Manifestations in Carriers
Neurol 34:798-801, O'Neill,B.P.,et al, 1984
The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984
Adrenoleukodystrophy:Survey of 303 Cases:Biochemistry, Diagnosis, & Therapy
Ann Neurol 16:628-641, Moser,H.W.,et al, 1984
Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
Neurol 33:237-240, Djupesland,G.,et al, 1983
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978
Gilles de la Tourette's syndrome:Clinical, Genetic, Psychologic, & Biochemical Aspects in 21 Selected Families
Neurol 27:115, Eldridge,R.,et al, 1977
Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome
NEJM 296:210, VanWoert,M.H.,et al, 1977
Juvenile Parkinsonism Treated with Levodopa
Arch Neurol 34:244, Sachdev,K.K.,et al, 1977
CT Scanning & Diagnosis of Adrenoleukodystrophy
Neurol 27:884, Greenberg,H.S.,et al, 1977
Cause of Weakness in Myasthenia Gravis
NEJM 294:722, Grob,D., 1976
Specific Laboratory Test for Diagnosis of MS
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