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Filter Applied: genetic neurologic disorders (Click to remove)

RNF213 Polymorphisms in Intracranial Artery Dissection
Genes doi.org/10.3390/genesis 15060725, Zedde,M.,et al, 2024

Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022

Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021

Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021

Genomewide Association Studies of Stroke
NEJM 360:1718-1728, Ikram,M.A.,et al, 2009

Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009

Decoding Cryptogenic Cardioembolism
Ann Neurol 64:364-365, Meschia,J.F., 2008

A Genetic Risk Factor for Periodic Limb Movements in Sleep
NEJM 357:639-647, Stefansson,H.,et al, 2007

Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
Neurol 69:2093-2104, Klein,C. &Schlossmacher,M.G., 2007

Hyperhomocysteinemia, Low Folate and Vitamin B12 Concentrations, and Methylene Tetrahydrofolate Reductase Mutation in Cerebral Venous Thrombosis
Stroke 35:1790-1794, Cantu,C.,et al, 2004

Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999

Case-Control Study of Risk Factors of Creutzfeldt-Jacob Disease in Europe During 1993-95
Lancet 351:1081-1085, Van Duijn,C.M.,et al, 1998

Genetic Testing for Alzheimer Disease, Practical and Ethical Issues
Arch Neurol 54:1226-1229, Roses,A.D., 1997

Complete Genomic Screen in Late-Onset Familial Alzheimer Disease, Evidence for a New Locus on Chromosome 12
JAMA 278:1237-1241, 12821997., Pericak-Vance,M.A.,et al, 1997

Stroke in Williams Syndrome
Stroke 27:143-146, Wollack,J.B.,et al, 1996

Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996

Increased Risk of Alzheimer's Disease in Mothers of Adults with Down's Syndrome
Lancet 344:353-356, Schupf,N.,et al, 1994

DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
JAMA 270:2316-2320, MacCollin,M.,et al, 1993

Risk Factors for Multiple Sclerosis:Race or Place? Editorial
JNNP 53:821-823, 903, 906990., Compston,A., 1990

A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025

The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025

Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024

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

Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023

Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022

The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019

Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014

Parkinson Disease Subtypes
JAMA 71:499-504, Thenganatt, M. & Jankovic, J., 2014

Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007

Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998

Kindreds of Dominantly Inherited Parkinson's Disease:Keys to the Riddle
Ann Neurol 38:355-356, Duvoisin,R.C.&Golbe,L.I., 1995

A Greek-American Kindred with Autosomal Dominant, Levodopa-Responsive Parkinsonism and Anticipation
Ann Neurol 38:373-378, 3551995., Markopoulou,K.,et al, 1995

The British Isles Survey of Multiple Sclerosis in Twins
Neurol 44:11-15, Mumford,C.J.,et al, 1994

Increased Risk of Parkinson's Disease in Parents and Siblings of Patients
Ann Neurol 36:659-661, Payami,H.,et al, 1994

Identical Twins with Similar Onset of Parkinson's Disease:A Case Report
Neurol 43:1159-1161, Pahwa,R.,et al, 1993

Familial Hyperlipidemia in Stroke in the Young
Stroke 17:1142-1145, Bansal,B.C.,et al, 1986

Specific Laboratory Test for Diagnosis of MS
BMJ 1:412, Field,E.J.,et al, 1974

AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025

Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024

Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
Neurol 97:e577-e586, Accogli, A.,et al, 2021

Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020

Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018

A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017

Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016

Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014



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