Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,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
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
Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
Neurol 86:28-35, La Piana, R.,et al, 2016
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts
Neurol 64:1502-1507, Klunemann,H.H.,et al, 2005
Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
AJNR 25:494-497, Aho,T.R.,et al, 2004
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Familial Occipital Calcifications, hemorrhagic Strokes, Leukoencephalopathy, Dementia, and External Carotid Dysplasia
Neurol 55:1661-1667, Iglesias,S.,et al, 2000
Neuroradiologic Findings in Marinesco-Sjogren Syndrome
AJNR 19:281-283, Georgy,B.A.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
Ann Neurol 41:150-159, Heutnik,P.,et al, 1997
Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
Neurol 48:645-649, Kobari,M.,et al, 1997
CT and MR Findings of Neuroacanthocytosis
J Comput Assist Tomogr 21:221-222, Okamoto,K.,et al, 1997
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
Ann Neurol 37:289-293, 2851995., Vahedi,K.,et al, 1995
Non-Progressive Familial Idiopathic Intracranial Calcification:A Family Report
JNNP 59:432-434, Callender,J.S., 1995
Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993
Progressive Language Disorder Due to Lobar Atrophy
Ann Neurol 31:174-183, Snowden,J.S.,et al, 1992
Clinicopath Conf
Pick's Diseae, Case 6-1992, NEJM 326:397-405992., , 1992
Intracranial Aneurysms in Autosom Dominant Polycystic Kidney Disease
NEJM 327:916-920, 9531992., Chapman,A.B.,et al, 1992
Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992
Detection of Tuberous Sclerosis in Parents by Magnetic Resonance Imaging
Neurol 41:262-265, Roach,E.S.,et al, 1991
Clinicopath Conf
Pheochromocytoma of Adrenal Gland, Von Hippel-Lindau Disease, Case 16-1991, NEJM 324:1119-112791., , 1991
Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 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
Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
Stroke 21:291-294, Ryu,S.J., 1990
Hyperostosis Cranialis Interna
NEJM 322:450-463, Manni,J.J.,et al, 1990
Familial Meningioma
Neurol 40:312-314, McDowell,J.R., 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
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
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
Neurologic Complications in Long-Standing Nephropathic Cystinosis
Arch Neurol 46:543-548, Fink,J.K.,et al, 1989
Adult-Onset Adrenoleukodystrophy Manifesting as Dementia
Am J Med 87:481-483, Panegyres,P.K.,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
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988