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Cheryl Longman

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Ruth McGowan; Sarah Ross; John Tolmie; Douglas Wilcox; Benjamin R Challoner; Simon T Holden; Susan Holloway; Shelagh Joss; Cheryl Longman
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?
Sebahattin Cirak; Aileen Reghan Foley; Ralf Herrmann; Matt Hurles; Alisa Kamynina; Rudolf Korinthenberg; Cheryl Longman; Gianni Marrosu; Daniel Michele; Steven A Moore; Peter Nürnberg; Vincent Plagnol; Helen Roper; Caroline A Sewry; Elizabeth Stevens; Silvia Torelli; Thomas Voit; Petr Vondracek; Tobias Willer; Shu Yau; Lina Brodd; Kevin P Campbell; Francesco Muntoni
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Robert D S Pitceathly; Shamima Rahman; Mary M Reilly; Stephanie A Robb; Michael Rose; Mary G Sweeney; Cathy Woodward; Julian Blake; Annapurna Chalasani; Michael Champion; Ellen Cottenie; Carol Crowe; Frances Flinter; Iain P Hargreaves; Simon Heales; Janice L Holton; Henry Houlden; John Land; Cheryl Longman; Michael P Lunn; Ese E Mudanohwo; Sinéad M Murphy; Rupert Page; Jacqueline Palace; Michael G Hanna
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

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All Publications

2013: Ruth McGowan; Sarah Ross; John Tolmie; Douglas Wilcox; Benjamin R Challoner; Simon T Holden; Susan Holloway; Shelagh Joss; Cheryl Longman
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?
Clinical genetics 2013;83(2):187-90.
2013: Sebahattin Cirak; Aileen Reghan Foley; Ralf Herrmann; Matt Hurles; Alisa Kamynina; Rudolf Korinthenberg; Cheryl Longman; Gianni Marrosu; Daniel Michele; Steven A Moore; Peter Nürnberg; Vincent Plagnol; Helen Roper; Caroline A Sewry; Elizabeth Stevens; Silvia Torelli; Thomas Voit; Petr Vondracek; Tobias Willer; Shu Yau; Lina Brodd; Kevin P Campbell; Francesco Muntoni
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain : a journal of neurology 2013;136(Pt 1):269-81.
2012: Robert D S Pitceathly; Shamima Rahman; Mary M Reilly; Stephanie A Robb; Michael Rose; Mary G Sweeney; Cathy Woodward; Julian Blake; Annapurna Chalasani; Michael Champion; Ellen Cottenie; Carol Crowe; Frances Flinter; Iain P Hargreaves; Simon Heales; Janice L Holton; Henry Houlden; John Land; Cheryl Longman; Michael P Lunn; Ese E Mudanohwo; Sinéad M Murphy; Rupert Page; Jacqueline Palace; Michael G Hanna
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
Neurology 2012;79(11):1145-54.
2011: Catherine A McWilliam; Mark F Devlin; Shelagh Joss; David A Koppel; Cheryl Longman; Arup Ray; Margo Whiteford
Cleft lip and palate with associated digital and cardiac anomalies: a new dominant orofacial clefting syndrome?
Clinical dysmorphology 2011;20(2):89-91.
2008: Emma M Clement; Caroline Godfrey; Jenny Tan; Martin Brockington; Silvia Torelli; Lucy Feng; Susan C Brown; Cecilia Jimenez-Mallebrera; Caroline A Sewry; Cheryl Longman; Rachael Mein; Stephen Abbs; Jiri Vajsar; Harry Schachter; Francesco Muntoni
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Archives of neurology 2008;65(1):137-41.
2007: Kim Debacker; Birgitta Winnepenninckx; Cheryl Longman; J Colgan; J Tolmie; R Murray; Rob van Luijk; Stefaan Scheers; D Fitzpatrick; Frank Kooy
The molecular basis of the folate-sensitive fragile site FRA11A at 11q13.
Cytogenetic and genome research 2007;119(1-2):9-14.
2005: Heinz Jungbluth; Haiyan Zhou; L Hartley; Birgit Halliger-Keller; Sonia Messina; Cheryl Longman; Martin Brockington; Stephanie Robb; Volker Straub; Thomas Voit; Michael Swash; Ana Ferreiro; Graeme M Bydder; Caroline A Sewry; C Müller; Francesco Muntoni
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Neurology 2005;65(12):1930-5.
2005: Gabrielle Sellick; Cheryl Longman; Martin Brockington; Ibrahim Mahjneh; L Sagi; Kate Bushby; H Topaloğlu; Francesco Muntoni; richard Houlston
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
Human genetics 2005;117(2-3):207-12.
2005: Martin Brockington; Silvia Torelli; Paola Prandini; Chiara A Boito; Nazanin F Dolatshad; Cheryl Longman; Susan C Brown; Francesco Muntoni
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
Human molecular genetics 2005;14(5):657-65.
2004: Eugenio Mercuri; Anne Lampe; Volker Straub; Yeliz Yuva; Cheryl Longman; M Wright; Sue Brown; Caroline Sewry; Carsten Bonnemann; Maria Kinali; Martin Brockington; I Hausser; David Hilton-Jones; Thomas Voit; Kate Bushby; Francesco Muntoni
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.
Neuropediatrics 2004;35(4):224-9.
2004: Cheryl Longman; Eugenio Mercuri; Frances M Cowan; Joanna M Allsop; Martin Brockington; Cecilia Jimenez-Mallebrera; Sailesh Kumar; Mary Rutherford; Tatsushi Toda; Francesco Muntoni
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.
Archives of neurology 2004;61(8):1301-6.
2004: D Beltran-Valero de Bernabé; Thomas Voit; Cheryl Longman; Alice Steinbrecher; Volker Straub; Yeliz Yuva; Ralf Herrmann; J Sperner; C Korenke; Charlotta Diesen; William B Dobyns; H G Brunner; H van Bokhoven; Martin Brockington; Francesco Muntoni
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Journal of medical genetics 2004;41(5):e61.
2004: Cheryl Longman; Caroline A Sewry; Francesco Muntoni
Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.
Pediatric neurology 2004;30(2):125-8.
2004: Eugenio Mercuri; Sonia Messina; Maria Kinali; Claudio Cini; Cheryl Longman; R Battini; G Cioni; Francesco Muntoni
Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.
Neuromuscular disorders : NMD 2004;14(2):125-9.
2004: Gabrielle Sellick; Cheryl Longman; John Tolmie; Ruth Newbury-Ecob; Lynn Geenhalgh; Simon Hughes; Margo Whiteford; Christine Garrett; richard Houlston
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.
Nucleic acids research 2004;32(20):e164.
2003: Pervin Dinçer; Burcu Balci; Yeliz Yuva; Beril Talim; Martin Brockington; Deniz Dinçel; Silvia Torelli; Sue Brown; Gülsev Kale; Göknur Haliloglu; Filiz Ozbas Gerçeker; Rengul Cetin-Atalay; Cengiz Yakicier; Cheryl Longman; Francesco Muntoni; Haluk Topaloglu
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Neuromuscular disorders : NMD 2003;13(10):771-8.
2003: Cheryl Longman; Martin Brockington; Silvia Torelli; Cecilia Jimenez-Mallebrera; Colin Kennedy; Nofal Khalil; Lucy Feng; Ravindra K Saran; Thomas Voit; Luciano Merlini; Caroline A Sewry; Susan C Brown; Francesco Muntoni
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Human molecular genetics 2003;12(21):2853-61.
2003: Cheryl Longman; Margo Whiteford; David Koppel; Malcolm Donaldson; Wendy F Paterson; John Tolmie
Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.
Clinical dysmorphology 2003;12(4):215-20.
2003: Cheryl Longman; John Tolmie; Robert C McWilliam; Alexander MacLennan
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.
Clinical dysmorphology 2003;12(2):133-6.
2003: Zarazuela Zolkipli; Cheryl Longman; Sue Brown; Nazneen Rahman; S E Holder; Francesco Muntoni
Skeletal muscle involvement in infantile systemic hyalinosis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(6):401-6.
2003: Shelagh Joss; Cheryl Longman; A J K Kumar; R Younger; R Morrison; F Begum; J Colgan; John Tolmie
The Southwest of Scotland Structural Chromosomal Abnormalities Database: an assessment of its contribution to genetic counselling in affected families.
Genetic counseling (Geneva, Switzerland) 2003;14(2):187-94.
2001: Cheryl Longman; John Tolmie; Robert C McWilliam
Non-progressive mental retardation and peripheral neuropathy in a mother and her son.
Clinical dysmorphology 2001;10(4):273-6.