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8篇 您的检索式：作者名="Shirah"

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		题名	作者	年代	出处	被引量
	1	Intra-abdominal Infections显示文摘	Gina R. Shirah Patrick J. O’Neill	2014	Surgical Clinics of North America2014，，6：	2
	2	Des-γ-carboxyl prothrombin-promted vascular endothelial cell proliferation and migration显示文摘	FUJIKAWA T SHIRAHAL H UEDA N	2007	Biol Chem2007，282，12：	1
	3	Cerebral and somatic oxygen saturation decrease after delayed sternal closure in children after cardiac surgery显示文摘	Robert Horvath Shirah Shore Steven E. Schultz Eliot R. Rosenkranz Mary Cousins Marco Ricci	2010	The Journal of Thoracic and Cardiovascular Surgery2010，，4：	1
	4	Preoperative neutrophil?to-lymphocyte ratio is a predictor of survival after hepatectomy for hepatocellular carcinoma: a retrospective analysis 显示文摘	Mano Y Shirahe K Yamashita Y	2013	Ann Surg2013，258，2：	1
	5	Involvement of CD40-CD40L signaling in postischemic lung injury显示文摘	Moore TM Shirah WB Khimenko PL	2002	Am J Physiol Lung Cell Mol Physiol2002，283，：	1
	6	The relative contributions of stereo, lighting, and background scenes in promoting 3D depth visualization显示文摘	HUBONA G S WHEELER P N SHIRAH G W	1999	ACM Transactions on Computer-Human Interaction (TOCHI)1999，6，3：	1
	7	Occurrence of prolonged injection site mass with methylene blue but not isosulfan blue af- ter the sentinel node procedure显示文摘	Shirah GR Bouton ME Komenaka IK	2011	Arch Surg2011，146，2：	1
	8	Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family显示文摘The nonlysosomal glucosylceramidase b2(GBA2)gene encode an enzyme that catalyzes the hydrolysis of glucosylceramide to glucose and ceramide.Mutations in the GBA2 gene have been reported to cause hereditary spastic paraplegia,autosomal recessive cerebellar ataxia with spasticity,and Marinescu-Sjogren-Like Syndrome.In this study,we report the clinical features and genetic diagnosis of autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family.We included a large consanguineous Saudi family with a presumptive clinical diagnosis of ataxia at King Abdulaziz Medical City in Jeddah,Saudi Arabia.The family included six affected individuals and four unaffected in addition to the parents.Whole exome sequencing(WES)was performed for the probandⅣ-5,and Sanger sequencing was used to confirm the variant in other family members.Segregation study was performed using DNA from the parents and siblings of the proband.Sequence analysis identified a homozygous variant c.2618G>A,p.(Arg873His)in GBA2 gene.The homozygous variant was identified in affected members of the family while the parents and the other four siblings were heterozygous carriers of the variant.One sibling was not available for genetic testing.The variant identified in our patients is classified as pathogenic considering the current evidence of the variant.Autosomal recessive cerebellar ataxia with spasticity is an extremely rare genetic disorder with very few cases reported in the literature.We conclude that the c.2617G>A mutation in GBA2 gene causes the loss of function with abolishment of the enzymatic activity that causes the disease.This report adds further evidence to support the pathogenicity of this variant.The patients had the classical clinical phenotype of cerebellar ataxia and spasticity consistent with previous reports in the literature.	Hussein Algahtani Bader Shirah Ikram Ullah Mohammad H.Al-Qahtani Angham Abdulrahman Abdulkareem Muhammad Imran Naseer	2021	Genes & Diseases2021，8，1：	0

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