ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Autor: Russell Lane, Isabelle Pénisson-Besnier, Wojtek Rakowicz, Charlotte K. Brierley, Cheryl Longman, Fiona Norwood, Andrew P. Jackson, Dieter Gläser, Matt Parton, Rumaisa Bashir, David Hilton-Jones, Debbie Hicks, Benedikt Schoser, Marcus Deschauer, Paul Maddison, John Nixon, Laura E. Rufibach, Meriel McEntagart, Isabel Illa, John McConville, Rita Barresi, John B Winer, Herbert Schreiber, Grainne S. Gorman, Laurence A. Bindoff, Christopher J Price, Hanns Lochmüller, Partha Ray, Simon Hammans, David Cottrell, Mark Roberts, Anthony H.V. Schapira, J. Hudson, Francesco Muntoni, Elizabeth Harris, Jay Panicker, Richard Walters, Ali Al-Memar, Robert G. Cooper, Esther Hwang, Sabine Krause, Pamela J. Shaw, Robert J. Swingler, Michelle Eagle, Bertold Schrank, Anna Sarkozy, Andrew W. Gibson, Maggie C. Walter, Richard E. Petty, Michael G. Hanna, Kathryn R. Wagner, Chris Turner, Peter Van den Bergh, Aijaz Khan, Geraldine Bailey, Michela Guglieri, NP Davies, Kate Bushby, Volker Straub, Jürgen Seeger, Liesbeth De Waele, Steve Laval, Douglass M. Turnbull

Publikováno v: Human Mutation, Vol. 34, no.8, p. 1111-1118 (2013)
Human mutation, 2013, Vol.34(8), pp.1111-1118 [Peer Reviewed Journal]
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3e6e91bac2c99f929b8cc933a27687
https://doi.org/10.1002/humu.22342

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

Autor: Ali Al-Memar, Michael A. Simpson, Katherine J. Dick, Michael A. Patton, Johanna A. Reed, Barry A. Chioza, Robert N. Lightowlers, Zofia M.A. Chrzanowska-Lightowlers, Harold E. Cross, Kay Gurtz, Andrew H. Crosby, Christos Proukakis, Heema Patel, Gaurav V. Harlalka, Reza Sharifi

Publikováno v: The American Journal of Human Genetics. 87:655-660

In human mitochondria, polyadenylation of mRNA, undertaken by the nuclear-encoded mitochondrial poly(A) RNA polymerase, is essential for maintaining mitochondrial gene expression. Our molecular investigation of an autosomal-recessive spastic ataxia w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2ccbdf91cc79bed25c4ce042747cec
https://doi.org/10.1016/j.ajhg.2010.09.013

CAMPTOCORMIA AS A PRESENTATION OF POLYMYOSITIS

Autor: Nazia Karsan, John Philip O'Dwyer, Ali Al–Memar

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 84:e2.119-e2

We present here a case of a 59 year old woman who presented with many medical problems prompting referral and investigation under many medical specialties over several years. These included bowel motility problems, dysphagia secondary to oesophageal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dc51cc8b8c6dbd93c18a75dd3863d3f2
https://doi.org/10.1136/jnnp-2013-306573.205

Intraventricular haemorrhage in pregnancy due to Moya-moya disease

Autor: Ali Al-Memar, Piers Newman

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 64:686-686

A 37 year old Vietnamese woman 30 weeks into her first pregnancy presented with sudden severe headache and progression to unconsciousness over 30 minutes. In 1991 she was diagnosed as having migraine and a single generalised convulsion; an EEG and br

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1af0bdf1b4fd3d35787677830c179663
https://doi.org/10.1136/jnnp.64.5.686