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Filter Applied: genetic neurologic disorders (Click to remove)

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018

Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017

Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017

MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016

A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016

The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016

Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015

The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012

CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012

Restricted Diffusion in Vanishing White Matter
Arch Neurol 69:723-727, Van de Lei, H.D.W.,et al, 2012

Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
Neurol 79: e70-e72, Zhong, L.,et al, 2012

Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Nearly Completely Reversible Brain Abnormalities in a Patient With Incontinentia Pigmenti
AJNR 29:431-433, Lou,H.,et al, 2008

Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008

Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008

The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts
Neurol 64:1502-1507, Klunemann,H.H.,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

Neuroradiologic Findings in Marinesco-Sjogren Syndrome
AJNR 19:281-283, Georgy,B.A.,et al, 1998

Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
Neurol 51:1125-1130, Raaymakers,T.W.M.,et al, 1998

Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998

Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
Ann Neurol 39:166-173, Turner,R.S.,et al, 1996

Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995

Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992

Clinicopath Conf
Pheochromocytoma of Adrenal Gland, Von Hippel-Lindau Disease, Case 16-1991, NEJM 324:1119-112791., , 1991

Use of CT, MRI, & Localized 1H MR Spectroscopy in Canavan's Disease:A Case Report
Ann Neurol 30:106-110, Marks,H.G.,et al, 1991

Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990

Hyperostosis Cranialis Interna
NEJM 322:450-463, Manni,J.J.,et al, 1990

The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990

Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990

Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990

Familial Idiopathic Striopallidodentate Calcifications
Neurol 39:381-385, Ellie,E.,et al, 1989

Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989

Radiologic Screening for von Hippel-Lindau Disease:Role of Gd-DTPA Enhanced MR Imaging of the CNS
J Comput Assist Tomogr 13:743-755, Filling-Katz,M.R.,et al, 1989

Leigh Disease (Subacute Necrotizing Encephalomyelopathy) :CT & MR in Five Cases
J Comput Assist Tomogr 12:40-44, Geyer,C.A.,et al, 1988

Cerebral Cavernous Malformations:Incidence and Familial Occurrence
NEJM 319:343-347, Rigamonti,D.,et al, 1988

Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy
Arch Neurol 45:1004-1008, Schwankhaus,J.D.,et al, 1988

MR Imaging of Pelizaeus-Merzbacher Disease
J Comput Assist Tomogr 11:591-593, Penner,M.W.,et al, 1987

MR Imaging in Fahr Disease
J Comput Assist Tomogr 9:790-792, Scotti,G.,et al, 1985

MR Imaging of Familial Basilar Impression
J Comput Assist Tomogr 8:953-956, Bewermeyer,H.,et al, 1984

Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021

"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021

A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019

A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016

Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014

Degenerative Diseases of the Nervous System, Alzheimer Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014

Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009

Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007



Showing articles 0 to 50 of 257 Next >>