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Journal Articles

in Neurogenetics
 41-60 of 315 Articles
JAMA Neurology | 
Observation |  January 01, 2013
Intracranial Aneurysm and Recessive Polycystic Kidney Disease:  The Third Reported Case
Viviane Chalhoub, MD; Lise Abi-Rafeh, MD; Kamal Hachem, MD; et al.
JAMA Neurol. 2013;70(1):114-116. doi:10.1001/jamaneurol.2013.584.
JAMA Neurology | 
Original Contribution |  January 01, 2013
Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement
Rita João Guerreiro, PhD; Ebba Lohmann, MD; José Miguel Brás, PhD; et al.
JAMA Neurol. 2013;70(1):78-84. doi:10.1001/jamaneurol.2013.579.
INCLUDES: , Supplemental Content
JAMA Psychiatry | 
Original Article |  January 01, 2013
Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings
Robert A. Power, BSc; Simon Kyaga, MD; Rudolf Uher, MD, PhD, MRCPsych; et al.
JAMA Psychiatry. 2013;70(1):22-30. doi:10.1001/jamapsychiatry.2013.268.
JAMA Neurology | 
Correspondence |  December 01, 2012
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing
Gabriella Silvestri, MD, PhD; Marcella Masciullo, MD; Filippo M. Santorelli, MD
Arch Neurol. 2012;69(12):1661-1662. doi:10.1001/2013.jamaneurol.70.
JAMA Neurology | 
Correspondence |  December 01, 2012
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply
Angela Pyle, PhD; Rita Horvath, MD; Patrick F. Chinnery, PhD, FRCP, FMedSci
Arch Neurol. 2012;69(12):1661-1662. doi:10.1001/2013.jamaneurol.389.
JAMA Psychiatry | 
Original Article |  December 01, 2012
Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and Obesity
Carl Ernst, PhD; Christian R. Marshall, PhD; Yiping Shen, PhD; et al.
Arch Gen Psychiatry. 2012;69(12):1238-1246. doi:10.1001/archgenpsychiatry.2012.660.
INCLUDES: , Supplemental Content
JAMA Neurology | 
Original Contribution |  December 01, 2012
Investigation of C9orf72 in 4 Neurodegenerative Disorders
Zhengrui Xi, PhD; Lorne Zinman, MD; Yakov Grinberg, PhD; et al.
Arch Neurol. 2012;69(12):1583-1590. doi:10.1001/archneurol.2012.2016.
JAMA Neurology | 
Observation |  December 01, 2012
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions
Caterina Garone, MD; Juan Carlos Rubio, PhD; Sarah E. Calvo, PhD; et al.
Arch Neurol. 2012;69(12):1648-1651. doi:10.1001/archneurol.2012.405.
JAMA Neurology | 
Neurological Review |  December 01, 2012
Dopa-Responsive Dystonia Revisited:  Diagnostic Delay, Residual Signs, and Nonmotor Signs
Vera Tadic, MD; Meike Kasten, MD; Norbert Brüggemann, MD; et al.
Arch Neurol. 2012;69(12):1558-1562. doi:10.1001/archneurol.2012.574.
INCLUDES: , Supplemental Content
JAMA Psychiatry | 
Original Article |  December 01, 2012
A System-Level Transcriptomic Analysis of Schizophrenia Using Postmortem Brain Tissue Samples
Panos Roussos, MD, PhD; Pavel Katsel, PhD; Kenneth L. Davis, MD; et al.
Arch Gen Psychiatry. 2012;69(12):1205-1213. doi:10.1001/archgenpsychiatry.2012.704.
INCLUDES: , Supplemental Content
JAMA Neurology | 
Original Contribution |  December 01, 2012
Shared Predispositions of Parkinsonism and Cancer:  A Population-Based Pedigree-Linked Study
Seth A. Kareus, MD; Karla P. Figueroa, MS; Lisa A. Cannon-Albright, PhD; et al.
Arch Neurol. 2012;69(12):1572-1577. doi:10.1001/archneurol.2012.2261.
JAMA Neurology | 
Editorial |  December 01, 2012
Families With Parkinson Disease and Cancer
Walter A. Rocca, MD, MPH
Arch Neurol. 2012;69(12):1549-1550. doi:10.1001/archneurol.2012.2664.
JAMA Neurology | 
Correspondence |  November 01, 2012
Spinocerebellar Ataxia Types 2 and 10: More Than a Coincidental Association?—Reply
Sachin S. Kapur, MD, MS; Jennifer G. Goldman, MD, MS
Arch Neurol. 2012;69(11):1524-1525. doi:10.1001/archneurol.2012.2771.
JAMA Ophthalmology | 
Ophthalmic Molecular Genetics |  November 01, 2012
BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome
Alejandro Estrada-Cuzcano, BSc; Robert K. Koenekoop, MD, PhD; Audrey Senechal, PhD; et al.
Arch Ophthalmol. 2012;130(11):1425-1432. doi:10.1001/archophthalmol.2012.2434.
JAMA Neurology | 
Original Contribution |  October 08, 2012 ONLINE FIRST
Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement
Rita João Guerreiro, PhD; Ebba Lohmann, MD; José Miguel Brás, PhD; et al.
Arch Neurol. 2012;():1-7. doi:10.1001/archneurol.2013.579.
INCLUDES: , Supplemental Content
JAMA | 
Lab Reports |  October 03, 2012
Potential Target for ALS Therapy
Tracy Hampton, PhD
JAMA. 2012;308(13):1310. doi:10.1001/jama.2012.13154.
JAMA | 
Preliminary Communication |  October 03, 2012 FREE
Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic Myotonia:  A Randomized Controlled Trial
Jeffrey M. Statland, MD; Brian N. Bundy, PhD; Yunxia Wang, MD; et al.
JAMA. 2012;308(13):1357-1365. doi:10.1001/jama.2012.12607.
INCLUDES: , Supplemental Content
JAMA Ophthalmology | 
Research Letters |  October 01, 2012
Retinal Glioneuronal Hamartoma in Neurofibromatosis Type 1
Eleonora M. Lad, MD, PhD; Jason R. Karamchandani, MD; Deborah M. Alcorn, MD; et al.
Arch Ophthalmol. 2012;130(10):1335-1337. doi:10.1001/archophthalmol.2012.2250.
JAMA Ophthalmology | 
Research Letters |  October 01, 2012
Surgical Removal of an Atypical Macular Epiretinal Membrane in Neurofibromatosis Type 2: Clinicopathologic Correlation and Visual Outcome
Dennis P. Han, MD; Melody Chin, BS; Kenneth B. Simons, MD; et al.
Arch Ophthalmol. 2012;130(10):1337-1339. doi:10.1001/archophthalmol.2012.2305.
JAMA Neurology | 
Clinical Pathologic Conference |  October 01, 2012
Slowly Progressive Ataxia, Neuropathy, and Oculomotor Dysfunction
Justin T. Jordan, MD; Gincy Samuel, MD; Steven Vernino, MD, PhD; et al.
Arch Neurol. 2012;69(10):1366-1371. doi:10.1001/archneurol.2012.2356.

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From The JAMA Network
JAMA Neurology
Original Contribution  |  May 6, 2013
Genetic Analysis of Inherited Leukodystrophies:  Genotype-Phenotype Correlations in the CSF1R Gene
Rita Guerreiro, PhD; Eleanna Kara, MD, MSc; Isabelle Le Ber, MD, PhD; et al.
JAMA
Lab Reports  |  May 01, 2013
Medulloblastoma Growth Factor
Tracy Hampton, PhD
JAMA Neurology
Images in Neurology  |  March 11, 2013
Pulsating Enophthalmos in Neurofibromatosis 1
Alexander Lehn, MD; Caroline Airey, MBBS; Richard Boyle, FRACP
JAMA Neurology
Original Contribution  |  March 18, 2013
Proximal Dominant Hereditary Motor and Sensory Neuropathy With Proximal Dominance Association With Mutation in the TRK-Fused Gene
Sang-Soo Lee, MD; Hye Jin Lee, MSc; Jin-Mo Park, MD; et al.
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