Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
Adams & Victors Principles of Neurology, Chp 30, pg 628, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Gluten Sensitivity in Sporadic and Hereditary Cerebellar Ataxia
Ann Neurol 49:540-543, Bushara,K.O.,et al, 2001
Familial Idiopathic Intracranial Hypertension with Spinal and Radicular Pain
Arch Neurol 55:854-856, Santinelli,R.,et al, 1998
Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
Neurol 50:853-855, Nygaard,T.G.&Wooten,G.F., 1998
Idiopathic Granulomatous Angiitis of the CNS Manifesting as Diffuse White Matter Disease
Neurol 49:1696-1699, Finelli,P.F.,et al, 1997
Levorotatory Form of 5-Hydroxytryptophan in Friedreich's Ataxia
Arch Neurol 52:456-460, Trouillas,P.,et al, 1995
Double-Blind Study with Levorotatory form of Hydroxytryptophan in Pts with Degen Cerebellar Dis
Arch Neurol 52:451-455, 4401995., Wessel,K.,et al, 1995
Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
NEJM 333:1313-1318, 13511995., Gotoda,T.,et al, 1995
Inclusion Body Myositis and Myopathies
Ann Neurol 38:705-713, Griggs,R.C.,et al, 1995
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991
Erythromelalgia:Review of Clinical Characteristics and Pathophysiology
Am J Med 91:416-422, Jurzrock,R.&Cohen,P.R., 1991
Dopa-Responsive Dystonia:The Spectrum of Clinical Manifestations in a Large North American Family
Neurol 40:66-69, Nygaard,T.G.,et al, 1990
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid
NEJM 311:1649-1652, Berginer,V.M.,et al, 1984
Physostigmine in Familial Ataxias
Neurol 27:70, Kark,R.A.,et al, 1977
Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
Arch Neurol 34:123, Singh,N.,et al, 1977
Peripheral Neuropathy, A Review
JAMA 335:255-266, Mauermann,M.L. & Staff,N.P., 2026
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Endovascular Venous Sinus Stenting versus CSF Shunting for Idiopathic Intracranial Hypertssion:Nationwide Real-World Outcomes
AJNR 47:1238-1243, Chen,H.,et al, 2026
Inflammatory Myopathies
NEJM 394:1925-1938, AllenBach,Y. & Benveniste,O., 2026
Rocky Mountain Spotted Fever Encephalitis and "Starry Sky" Pattern on MRI, A Case Report
Neurologist 30:34-38, Mikhaiel,J.P.,et al, 2025
Clinical Presentation, Investigation Findings, and Outcomes of IgG4-Related Pachymeningitis,A Systematic Review
JAMA Neurol 82:193-199, Terrim,S.,et al, 2025
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
Neurol 104:e213363, McAree,M. & Frontera, J.A., 2025
Acute Unilateral Isolated Ptosis
BMJ Case Rep doi:10.1136/bcr-2014-207720, Court,J.H. & Janicek,D., 2025
Endovascular Thrombectomy for Large Ischemic Core Stroke, A Systematic Review and Meta-Analysis of Randomized Controlled Trials
Neurol 104:e213443, Liu,C.,et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Pan-Neurofascin Nodo-Paranodopathy Presenting as Fulminant Guillain-Barre Syndrome
Neurol 105:e213848, Cabral,A.,et al, 2025
GLP-1 Receptor Agonists in Idiopathic Intracranial Hypertension
JAMA Neurol 82:887-892, Sioutas,G.S.,et al, 2025
Idiopathic Intracranial Hypertension
NEJM 393:1409-1414, Horton,J.C., 2025
A 38-Year-Old Man With Involuntary Jerk-Like Movements and Ataxia
Neurol 105:e214381, Gomez,A.C.et al, 2025
A 16-Year-Old Adolescent Boy with Ophthalmoplegia and Unilateral Ptosis
Neurol 105:e214430, Lu,Y.,, 2025
A Randomized Trial of Shunting for Idiopathic Normal-Pressure Hydrocephalus
NEJM 393:2198-2209, 2264, Luciano,M.G.,et al, 2025