作者： Astrid Hellmund ; Christoph Berg ; Annegret Geipel…

关键词：Fetus ; Akinesia deformation sequence ; Arthrogryposis multiplex congenita ; Joint contractures ; Lung hypoplasia

刊名：Archives of Gynecology and Obstetrics

出版年：2016

作者： Emily Owens ; Keith A. Josephs ; Rodolfo Savica ; Anhar Hassan…

关键词：Gait freezing ; PSP ; Falls ; PAGF

刊名：Journal of Neurology

出版年：2016

作者： Ariana Kariminejad ; Siavash Ghaderi-Sohi…

关键词：Lethal multiple pterygium syndrome ; Akinesia ; Arthrogryposis ; Foetal hydrops ; Cystic hygroma ; Ryanodine receptor 1 ; RYR1

刊名：BMC Musculoskeletal Disorders

出版年：2016

作者： D. Natera-de Benito ; A. Nascimento ; A. Abicht ; C. Ortez ; C. Jou…

关键词：KLHL40 ; Congenital myopathies ; Nemaline myopathies ; Neuromuscular junction ; Acetylcholinesterase inhibitors ; Congenital myasthenic syndromes

刊名：Journal of Neurology

出版年：2016

作者： Naser Amini ; Nasim Vousooghi ; Mahmoudreza Hadjighassem…

关键词：Stem cell ; Kernicterus ; Phenyl hydrazine ; Sulfisoxazole

刊名：Neurotoxicity Research

出版年：2016

作者： F. Giancola ; F. Gentilini ; N. Romagnoli ; A. Spadari…

关键词：Enteric nervous system ; Immunohistochemistry ; Hirschsprung’s disease ; Lethal white foal syndrome ; Overo coat pattern

刊名：Cell and Tissue Research

出版年：2016

作者：Arthur B McKie (1)
Atif Alsaedi (2)
Julie Vogt (3)
Kyra E Stuurman (4)
Marjan M Weiss (4)
Hassan Shakeel (1)
Louise Tee (2)
Neil V Morgan (2)
Peter G J Nikkels (8)
Gijs van Haaften (6)
Soo-Mi Park (5)
Jasper J van der Smagt (6)
Marianna Bugiani (7)
Eamonn R Maher (1) (2) (5) (9)

1. Department of Medical Genetics ; University of Cambridge and NIHR Cambridge Biomedical Research Centre ; Cambridge Biomedical Campus ; Cambridge ; CB2 0QQ ; UK
2. Centre for Rare Diseases and Personalised Medicine ; University of Birmingham ; Edgbaston ; Birmingham ; B15 2TT ; UK
3. West Midlands Regional Genetics Service ; Birmingham Women鈥檚 Hospital ; Birmingham ; B15 2TG ; UK
4. Department of Clinical Genetics ; VU University Medical Center ; Amsterdam ; The Netherlands
8. Department of Pathology ; University Medical Center Utrecht ; Utrecht ; The Netherlands
6. Department of Medical Genetics ; University Medical Center Utrecht ; University of Utrecht ; Utrecht ; The Netherlands
5. Department of Clinical Genetics ; Addenbrooke鈥檚 Treatment Centre ; Cambridge University Hospitals NHS Foundation Trust ; Hills Road ; Cambridge ; CB2 0QQ ; UK
7. Department of Pathology ; VU University Medical Center ; Amsterdam ; the Netherlands
9. Department of Medical Genetics ; School of Clinical Medicine ; University of Cambridge ; Addenbrooke鈥檚 Treatment Centre ; Cambridge Biomedical Campus ; Box 238 ; Cambridge ; CB2 0QQ ; United Kingdom

关键词：Multiple pterygium syndrome ; Foetal akinesia ; RYR1 mutations ; Myopathy

刊名：Acta Neuropathologica Communications

出版年：2014

作者： Alexander C. Sutton ; Katherine A. O’Connor…

关键词：6 ; hydroxydopamine ; Forelimb akinesia ; Parkinson’s disease

刊名：Brain Structure and Function

出版年：2015

作者： Roongroj Bhidayasiri ; Onanong Jitkritsadakul…

关键词：Atypical parkinsonism ; Vascular parkinsonism ; Modified Parkinson’s Disease Sleep Scale ; Nocturnal Akinesia Dystonia and Cramp Score ; Urinary incontinence ; Nocturnal akinesia ; Nonmotor symptom

刊名：Journal of Neural Transmission

出版年：2014

作者： C. Morandi ; J. Martellucci ; M. Genovese ; P. Torricelli

刊名：Techniques in Coloproctology

出版年：2015