Genetics

Contributing journals to this collection:
BMJ, , Molecular Pathology, Journal of Clinical Pathology, British Journal of Ophthalmology, Tobacco Control, Postgraduate Medical Journal, Injury Prevention, Practical Neurology, Heart, Archives of Disease in Childhood - Education and Practice, BMJ Case Reports, Drug and Therapeutics Bulletin, Evidence-Based Medicine, Archives of Disease in Childhood - Fetal and Neonatal Edition, Journal of Epidemiology and Community Health, Journal of Neurology, Neurosurgery, and Psychiatry, Journal of Medical Genetics, Journal of NeuroInterventional Surgery, Journal of Medical Ethics, Quality and Safety in Health Care, Emergency Medicine Journal, Evidence-Based Mental Health, EULAR Meeting Abstracts, Archives of Disease in Childhood, Gut, Medical Humanities, Thorax, Occupational and Environmental Medicine, Heart Asia, Evidence-Based Nursing, British Journal of Sports Medicine, and Sexually Transmitted Infections

Citations 1-10 of 792 total displayed.

Review
Diagnosis and new treatments in genetic neuropathies

M M Reilly and M E Shy
J. Neurol. Neurosurg. Psychiatry 2009; 80: 1304-1314. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Inherited Creutzfeldt–Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology

C Jansen, J C van Swieten, S Capellari, R Strammiello, P Parchi, and A J M Rozemuller
J. Neurol. Neurosurg. Psychiatry 2009; 80: 1386-1389. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

G Solé, I Coupry, C Rooryck, E Guérineau, F Martins, S Devés, C Hubert, N Souakri, O Boute, C Marchal, L Faivre, E Landré, S Debruxelles, A Dieux-Coeslier, C Boulay, S Chassagnon, V Michel, M-C Routon, A Toutain, N Philip, D Lacombe, L Villard, B Arveiler, and C Goizet
J. Neurol. Neurosurg. Psychiatry 2009; 80: 1394-1398. [Abstract] [Full text] [PDF] [Request Permissions] [ web only data ]  

Short reports
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

R Schüle, N Schlipf, M Synofzik, S Klebe, S Klimpe, U Hehr, B Winner, T Lindig, A Dotzer, O Rieß, J Winkler, L Schöls, and P Bauer
J. Neurol. Neurosurg. Psychiatry 2009; 80: 1402-1404. [Abstract] [Full text] [PDF] [Request Permissions] [ web only data ]  

Short reports
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients

H Bourteel, P Vermersch, J-M Cuisset, C-A Maurage, P Laforet, P Richard, and T Stojkovic
J. Neurol. Neurosurg. Psychiatry 2009; 80: 1405-1408. [Abstract] [Full text] [PDF] [Request Permissions]  

Research papers
Screen for intracranial dural arteriovenous fistulae with carotid duplex sonography

L-K Tsai, S-J Yeh, Y-C Chen, H-M Liu, and J-S Jeng
J. Neurol. Neurosurg. Psychiatry 2009 80: 1225 -1229; published online before print as 10.1136/jnnp.2008.166413 [Abstract] [Full text] [PDF] [Request Permissions]  

Neurological pictures
Paget’s disease

F Andrade
J. Neurol. Neurosurg. Psychiatry 2009; 80: 1240. [Extract] [Full text] [PDF] [Request Permissions]  

Short reports
TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation

D Bäumer, N Parkinson, and K Talbot
J. Neurol. Neurosurg. Psychiatry 2009; 80: 1283-1285. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred

K L Williams, J C Durnall, A D Thoeng, S T Warraich, G A Nicholson, and I P Blair
J. Neurol. Neurosurg. Psychiatry 2009; 80: 1286-1288. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood

P Bertholon, S Chabrier, F Riant, E Tournier-Lasserve, and R Peyron
J. Neurol. Neurosurg. Psychiatry 2009; 80: 1289-1292. [Abstract] [Full text] [PDF] [Request Permissions]