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Doreen Fialho

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Alejandro Horga; Emma Matthews; Simona Portaro; Dipa L Raja Rayan; Richa Sud; James A Burge; Mary B Davis; Siobhan C M Durran; Doreen Fialho; Andrea Haworth; Michael G Hanna
Prevalence study of genetically defined skeletal muscle channelopathies in England.
D L Raja Rayan; Stephanie Schorge; R Sud; A Toscano; K Tuin; J Burge; Mary B Davis; Doreen Fialho; A Haworth; P Lunt; E Matthews; M McEntagart; S Portaro; Michael G Hanna
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.
S Veronica Tan; Emma Matthews; Melissa Barber; James A Burge; Sanjeev Rajakulendran; Doreen Fialho; Richa Sud; Andrea Haworth; Martin Koltzenburg; Michael G Hanna
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

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2013: Alejandro Horga; Emma Matthews; Simona Portaro; Dipa L Raja Rayan; Richa Sud; James A Burge; Mary B Davis; Siobhan C M Durran; Doreen Fialho; Andrea Haworth; Michael G Hanna
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Neurology 2013;80(16):1472-5.
2012: D L Raja Rayan; Stephanie Schorge; R Sud; A Toscano; K Tuin; J Burge; Mary B Davis; Doreen Fialho; A Haworth; P Lunt; E Matthews; M McEntagart; S Portaro; Michael G Hanna
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.
Neurology 2012;78(24):1953-8.
2011: S Veronica Tan; Emma Matthews; Melissa Barber; James A Burge; Sanjeev Rajakulendran; Doreen Fialho; Richa Sud; Andrea Haworth; Martin Koltzenburg; Michael G Hanna
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
Annals of neurology 2011;69(2):328-40.
2010: E Matthews; Doreen Fialho; S V Tan; S L Venance; S C Cannon; D Sternberg; B Fontaine; A A Amato; R J Barohn; Robert C Griggs; Michael G Hanna
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
Brain : a journal of neurology 2010;133(Pt 1):9-22.
2008: Doreen Fialho; Dimitri M Kullmann; Michael G Hanna; Stephanie Schorge
Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita.
Neuromuscular disorders : NMD 2008;18(11):869-72.
2008: E Matthews; S V Tan; Doreen Fialho; Mary G Sweeney; R Sud; A Haworth; E Stanley; G Cea; Mary B Davis; Michael G Hanna
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Neurology 2008;70(1):50-3.
2007: Doreen Fialho; Stephanie Schorge; U Pucovska; Nicholas P Davies; R Labrum; A Haworth; E Stanley; R Sud; W Wakeling; Mary B Davis; Dimitri M Kullmann; Michael G Hanna
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Brain : a journal of neurology 2007;130(Pt 12):3265-74.
2006: Rita Horvath; Gavin Hudson; Gianfrancesco Ferrari; Nancy Fütterer; Sofia Ahola; Eleonora Lamantea; Holger Prokisch; Hanns Lochmüller; Robert McFarland; V Ramesh; Thomas Klopstock; Peter Freisinger; Fabrizio Salvi; Johannes A Mayr; René Santer; Marketa Tesarova; Jirí Zeman; Bjarne Udd; Robert W Taylor; Douglass Turnbull; Michael Hanna; Doreen Fialho; Anu Suomalainen; Massimo Zeviani; Patrick F Chinnery
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Brain : a journal of neurology 2006;129(Pt 7):1674-84.
2006: Gavin Hudson; Marcus Deschauer; Robert W Taylor; Michael G Hanna; Doreen Fialho; Andrew M Schaefer; L-P He; Emma L Blakely; Douglass M Turnbull; Patrick F Chinnery
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Neurology 2006;66(9):1439-41.
2006: Shannon L Venance; S C Cannon; Doreen Fialho; B Fontaine; Michael G Hanna; Louis J Ptacek; Martin Tristani-Firouzi; Rabi Tawil; Robert C Griggs
The primary periodic paralyses: diagnosis, pathogenesis and treatment.
Brain : a journal of neurology 2006;129(Pt 1):8-17.
2005: Nicholas P Davies; Paola Imbrici; Doreen Fialho; Colin Herd; L G Bilsland; A Weber; R Mueller; D Hilton-Jones; J Ealing; B R Boothman; Paola Giunti; L M Parsons; M Thomas; A Y Manzur; Karin Jurkat-Rott; Frank Lehmann-Horn; Patrick F Chinnery; M Rose; Dimitri M Kullmann; Michael G Hanna
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
Neurology 2005;65(7):1083-9.