Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Acquired Ocular Visual Impairment in Children, 1960-1989
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993
Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993
Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Clinicopath Conf
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Acute Intermittent Porphyria
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Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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Refsum Disease
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Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
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Familial Parkinsonism, Apathy, Weight Loss & Central Hypoventilation:Successful Long-Term Management
Neurol 38:637-639, Roy,E.P.,et al, 1988
MR Imaging of a Group I Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 12:851-853, Mutoh,K.,et al, 1988
Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987
Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
J Pediatr 110:522-530, Reid,C.S.,et al, 1987
Leber's Congenital Amaurosis
Arch Neurol 41:204-206, Weinstein,J.M.,et al, 1984
Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
Neurol 33:267-277, Stein,S.A.,et al, 1983
Where am I
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An Autosomal-dominant Dystrophy with Humeropelvic Distribution & Cardiomyopathy
Neurol 32:1399-1401, Fenichel,G.M.,et al, 1982
Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980
Marfan Syndrome
NEJM 300:772-777, Pyeritz,R.E.,et al, 1979
Gyrate Atrophy of the Choroid & Retina with Hyperornithinemia:Tubular Aggreg. & Type 2 Fiber Atrophy
Neurol 29:966, Sipila,I.,et al, 1979
Leigh's Disease in an Adult with Evidence of"Inhibitor Factor"in Family Members
Ann Neurol 3:519, Whetsell,W.O.,et al, 1978
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Obstructive Sleep Apnea in Family Members
NEJM 299:969-973, Strohl,K.P.,et al, 1978
An unusual Cause of Apparent Epilepsy:ECG & EEG Findings in a Case of Jervell Lange-Neilson Syndrome
JNNP 40:1102, Selby,P.J.,et al, 1977
Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
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Dominant Juvenile Optic Atrophy
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