Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Kelch-Like Protein 11 Antibodies in Seminoma-Associated Paraneoplastic Encephalitis
NEJM 381:47-54, Mandel-Brehm, C.,et al, 2019
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Neurosyphilis
Adams & Victors Principles of Neurology, Chp 32, pg 723, Ropper, A.H.,et al, 2014
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
A Rare Cause of Gait Ataxia
Lancet 378:1274, Rous, C.,et al, 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
Superficial Siderosis
Arch Neurol 64:491-496, Kumar,J, 2007
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Superficial Siderosis of the Central Nervous System,A Late Complication of Cerebellar Tumors
Neurol 52:163-169, Anderson,N.E.,et al, 1999
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Susac Syndrome
Medicine 77:3-11, Papo,T.,et al, 1998
Ocular Findings in Ramsay Hunt Syndrome
J Neuro-Ophthalmol 17:199-201, Mansour,A.M.&Bailey,B.J., 1997
Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Neurotox of Antimicrob & Antimalarial Agents
In Intox of Nervous System, Part II, Handbk Clin Neurol, Elsevier Science 21 (65) :471., Moorhouse,D.F.,et al, 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Neurological Multisystem Manifestation in Multiple Symmetric Lipomatosis:A Clinical and Electrophysiological Study
Muscle & Nerve 18:693-698995., Naumann,M.,et al, 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Management of Acoustic Neuroma
BMJ 311:1141-1144, Wright,A.&Bradford,R., 1995
The Pathogenesis of Superficial Siderosis of the Central Nervous System
Ann Neurol 34:646-653, 635-6361993., Koeppen,A.H.,et al, 1993
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Microangiopathy of the Brain, Retina, and Ear:Improvement without Immunosuppressive Therapy
Stroke 22:933-937, Gordon,D.L.,et al, 1991
Neurologic Manifestations of Giant Cell Arteritis
Am J Med 89:67-72, Reich,K.A.,et al, 1990
Acute Triphenyltin Intoxication:A Case Report
JNNP 53:356-357, Wu,RM.,et al, 1990
Clinicopath Conf
Subacute Cerebellar Degeneration, Cystadenocarcinoma of Ovary, (with Paraneoplastic Syndrome) , Case, 34-1EJM 321:524-535,1989., 1989
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Hypothyroidism
In Neurologic Clinics, W. B. Saunders Co, Phila, 7:492-493., Kaminski,H.J.&Ruff,R.L., 1989
Acute Trimethyltin Limbic-Cerebellar Syndrome
Neurol 37:945-950, Besser,R.,et al, 1987
Clinicopath Conf
Kearns-Sayre Syndrome (Oculocraniosomatic Neuromuscular Disease with Mitochondrial Myopathy) , Case, 4-1,NEJM 317:493-501,1987., 1987
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
The Leaking Labyrinth
BMJ 293:220-221, O'Donoghue,G.M.&Colman,B.H., 1986
Cogan's Syndrome:18 Cases & a Review of the Literature
Mayo Clin Proc 61:344-361, Vollertsen,R.S.,et al, 1986
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Nervous System Complications of Relapsing Polychondritis
Neurol 33:513-515, Sundaram,M.B.M.,et al, 1983
Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
Neurol 33:237-240, Djupesland,G.,et al, 1983
Acute Cerebellar Ataxia & Hearing Loss as Initial Symptoms of Infectious Mononucleosis
Arch Neurol 40:760-762, Erzurum,S.,et al, 1983
Neurologic Complications of Lymphomatoid Granulomatosis
Neurol 31:619-620, Hogan,P.J.,et al, 1981
Heredopathia Atactica Polyneuritiformis
Arch Neurol 38:605-606, Refsum,S., 1981
Neurologic Disturbances in Pagets Disease of Bone:Response to Calcitonin
Neurol 29:448-457, Chen,J.R.,et al, 1979
Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978
The Thyroid Gland:Its Relationship to Neurology
In Handbook of Clin Neurol, Vinken & Bruyn (Ed) , North Holland Publ Co, Amsterdam 27:255, Greene,R., 1976
Ataxia, Vertigo, & Hearing Loss
Arch Otolarygn l00:l30, Healy,G.B.,et al, 1974
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Occult Breast Cancer with Anti-Ri Antibody Positivity and Pontine Hot Cross Bun Sign
JAMA Neurol 80:207-208, Liu,Y.,et al, 2023