The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Autism
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Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Adrenoleukodystrophy
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Treatment of Attention-Deficit-Hyperactivity Disorder
NEJM 340:780-788, Elia,J.,et al, 1999
Tourette Syndrome:Update and Review of the Literature
The Neurologist 4:188-195, Feigin,A.&Clarke,H., 1998
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Tourette's Syndrome:A Model Neuropsychiatric Disorder
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Advances in Molecular Analysis of Fragile X Syndrome
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Angelman Syndrome: Clinical Profile
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Tourette Syndrome and Other Tic Disorders, Diagnosis, Pathophysiology, and Treatment
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Tourette's Syndrome:Current Concepts
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Tourette Syndrome
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Treating Problem Children with Stimulant Drugs
NEJM 289:407, Sroufe,L.A.,et al, 1973
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
AJNR 40:199-203, Pascual, B.,et al, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019