A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
Adams & Victors Principles of Neurology, Chp 33, pg 773, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
Sneddon's Syndrome:Neuro-Ophthalmologic Manifestations in a Possible Autosomal Recessive Pattern
Neurol 51:1185-1187, Rehany,U.,et al, 1998
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997
Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
Ann Neurol 39:100-106, Elliott,M.A.,et al, 1996
Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
Neurol 42:2251-2257, Mikati,M.A.,et al, 1992
Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
Neurol 41:429-433, Baloh,R.W.&Winder,A., 1991
Friedreich Ataxia
In Rowland, L. P. Merritt's Textbook of Neurology, 8th Ed, Lea & Febiger, Phila, Ch 13, p627, Rosenberg,R.N., 1989
Paroxysmal Cerebellar Ataxia
Aust NZ J Med 19:113-117, Feeney,G.F.&Boyle,R.S., 1989
An Autosomal Dominant Syndrome of Hemiplegic Migraine, Nystagmus, & Tremor
Ann Neurol 8:329-332, Zifkin,B.,et al, 1980
Familial Periodic Ataxia
Arch Neurol 36:568-569, Donat,J.R.,et al, 1979
Myasthenic Abduction Nystagmus in a Patient with Hyperthyroidism
Neurol 26:589, Finelli,P.F.&Hoyt,W., 1976
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Vascular Malformations of the Central Nervous System
www.UptoDate.Com, March, Singer,R.J.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 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
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations
AJNR 41:1126-1130, Mabray, M.C.,et al, 2020
A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
Neurol 92:486-492, Lau, K.H.V.,et al, 2019
A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019
Strokelike Episodes in a Patient with Chronic Gait Abnormalities
JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019