Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Neurological and Developmental Findings in Children with Cataracts
Am J Dis Child 13:706-710, Pike,M.G.,et al, 1989
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007
Neuroimaging Findings in Human Prion Disease
JNNP 78:664-670, Macfarlane,R.G.,et al, 2007
Infectious Prions or Cytotoxic Metabolites?
Lancet 341:159-161, Pablos-Mendez,A.,et al, 1993
Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
NEJM 324:1091-1097, Hsiao,K.,et al, 1991
The Spongiform Encephalopathies, Editorial
JNNP 54:761-763, Will,R.G., 1991
Inherited Human Prion Diseases
Neurol 40:1820-1827, Hsiao,K.&Prusiner,S.B., 1990
Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
Am J Med 77:86-92, Press,O.L.W.,et al, 1984
Periodic Meningitis & Familial Mediterranean Fever
Arch Int Med 142:378-379, Vilaseca,J.,et al, 1982
Creutzfeldt-Jakob Disease:Patterns of Worldwide Occurrence & the Significance of Familial & Sporadic Clustering
Ann Neurol 5:177-188, Masters,C.L.,et al, 1979
Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
Neurol 29:1402, Book,R.H.,et al, 1979
Precautions in Familial Transmissible Dementia
Arch Neurol 35:697-698, Cook,R.,et al, 1978
Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008
Autosomal Dominant Acute Necrotizing Encephalopathy
Neurol 61:226-230, Neilson,D.E.,et al, 2003
Multiple Sclerosis
NEJM 343:938-952, Noseworthy,J.H. et al, 2000
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Clinical and Genetic Studies of Fatal Familial Insomnia
Neurol 45:1068-1075, Reder,A.T.,et al, 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
NEJM 326:444-449, Medori,R.,et al, 1992
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992
Analysis of the Prion Protein Gene in Thalamic Dementia
Neurol 42:1859-1863, Petersen,R.B.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
J Pediatr 110:522-530, Reid,C.S.,et al, 1987
Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
Ann Neurol 4:130-144, Roman,G.,et al, 1978
Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
Arch Neurol 34:101, Adams,H.P.,et al, 1977
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022