Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
Neuromyelitis Optica Spectrum Disorders
UpToDate, May, Glisson,C.C., 2016
Cyclical Konzo Epidemics and Climate Variability
Ann Neurol 77:371-380, Oluwole, O.S.A., 2015
Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
RadioGraphics 31:5-30, Hegde,A.N.,et al, 2011
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Finding the Causes of Inherited Neuropathies
Arch Neurol 63:812-816, Scherer,S.S., 2006
The Clinical Spectrum of Neuralgic Amyotrophy in 246 cases
Brain 129:438-450, Alfen, N.V. & Baziel, G.M., 2006
Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005
Hereditary Motor and Sensory Neuropathies
Peripheral Neuropathy, Dyck,P.J. & Thomas,P.K. (Ed). Elsevier Publ, Vol 2, Ch 69: 1623-1635, Shy,M.E., et al, 2005
Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
Neurol 62:13-16, Bruno,C.,et al, 2004
Indications and Usefulness of Nerve Biopsy
Arch Neurol 59:1532-1535, Said,G., 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Clinical Spectrum of Chronic Acquired Demyelinating Polyneuropathies
Muscle & Nerve 24:311-324, Saperstein,D.S.,et al, 2001
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Optic Neuropathy
Neurol 46:315-322, Newman,N.J., 1996
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Restless Legs Syndrome:Clinicoetiologic Correlates
Neurol 47:1435-1441, Ondo,W.&Jankovic,J., 1996
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
Clinicopathological Study of 35 Cases of Multiple System Atrophy
JNNP 58:160-166, Wenning,G.K.,et al, 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Neurological Involvement in Wegener's Granulomatosis:An Analysis of 324 Consecutive Pts at the Mayo Clin
Neurol 33:4-9, Nishino,H.,et al, 1993
Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993
Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Classification and Treatment of Tremor
JAMA 266:1115-1117, Hallett,M., 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989
Lyme Disease
NEJM 321:586-596, Steere,A.C., 1989
Friedreich Ataxia
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Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Genetic Linkage in Neurologic Diseases
Editorial, NEJM 316:1018-10201987., Martin,J.B., 1987
The Role of Glutamate in Neurotransmission & in Neurologic Disease
Arch Neurol 43:1058-1063, Greenamyre,J.T., 1986
Behcets Syndrome
NEJM 390:640-651, Saadoun,D.,et al, 2024
Diagnosis and Management of ANCA-Associated Vasculitis
Lancet 403:683-698, Kronbichler, A., et al, 2024
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Early Surgery for Sciatics, Does New Evidence Challenge a Stepped Care Approach for all Patients?
BMJ 381:791, Schmid,A.B.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023