Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Paraneoplastic Calmodulin Kinase-Like Vesicle-Associated Protein (CAMKV) Autoimmune Encephalitis
Ann Neurol 96:21-33, Gilligan,M.,et al, 2024
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
Neurol 101:46-49, deGusmao,C.M.,et al, 2023
Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
Involuntary Hand-Shaking: Transient Ischemic Attack, Seizure, or Psychogenic?
Ann Neurol 88:12-13, Sharma, V.K. & Sinha, A.K., 2020
A Middle-Aged Man with New Onset Seizures and Myoclonic Jerks
Neurol 92:e274-e281, Chen, Z. & Neo, S., 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
A 75-year-old man with parkinsonism, mood depression, and weight loss
Neurol 90:572-575, Frattini, E.,et al, 2018
Encephalitis with mGluR5 antibodies
Neurol 90:e1964-e1972, Spatola, M.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Wilson Disease
NIDDK Oct2018, , 2018
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Investigations in GABA? Receptor Antibody-Associated Encephalitis
Neurol 88:1012-1020,1010, Spatola, M.,et al, 2017
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
A Pilot Study of Focused Ultrasound Thalamotomy for Essential Tremor
NEJM 369:640-648, Elias, W.J.,et al, 2013
Central Nervous System Involvement in Whipple Disease
Medicine 92:324-330, Compain, C.,et al, 2013
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012
Adult-Onset Opsoclonus-Myoclonus Syndrome
Arch Neurol 69:1598-1607, Klaas, J.,et al, 2012
Vertebral Artery Dissection Leading to Stroke Caused by Violent Neck Tics of Tourette Syndrome
Neurol 77:1706-1707, Lehman, L.L.,et al, 2011
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Retrospective Analysis of NMDA Receptor Antibodies in Encephalitis of Unknown Origin
Neurol 75:1735-1739, Pr�ss,H.,et al, 2010
Anti-N-Methyl-D-Aspartate Receptor (NHMDAR) Encephalitis in Children and Adolescents
Ann Neurol 66:11-18,1, Florance,N.R.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Clinicopath Conf., Anti-MNDAR Antibody Mediated Paraneoplastic Limbic Encephalitis Associated With Ovarian Teratoma
NEJM 359:842-853, Case 26-2008, 2008
Anti-NMDA-Receptor Encephalitis: Case Series and Analysis of the Effects of Antibodies
Lancet Neurol 7:1091-1098, Dalmau,J.,et al, 2008
Anti-NMDA-Receptor Encephalitis: Case Series and Analysis of the Effects of Antibodies
Lancet Neurol 7:1091-1098, Dalmau,J.,et al, 2008
A Genetic Risk Factor for Periodic Limb Movements in Sleep
NEJM 357:639-647, Stefansson,H.,et al, 2007
Age and High-Dose Methotrexate are Associated to Clinical Acute Encephalopathy in FRALLE 93 Trial for Acute Lymphoblastic Leukemia in Children
Leukemia 21:238-247, Dufourg, M.N.,et al, 2007
GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
Neurol 67:480-484, Mercimek-Mahmutoglu,S.,et al, 2006
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
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006