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Kathryn North

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Nigel F Clarke; Mark Davis; Kimberly Amburgey; Sandra I Camelo-Piragua; Eric P Hoffman; Akanchha Kesari; Nigel G Laing; Nicole Monnier; Kathryn N North; Jaya Punetha; James Teener; Leigh B Waddell; James Dowling
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.
Emily C Oates; Jonathan M Payne; Nigel F Clarke; Sheryl L Foster; Kathryn N North
Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge.
Angela Lek; Frances A Lemckert; Ann-Katrin Lueders; Kathryn N North; Gregory M I Redpath; Lynne Turnbull; Cynthia B Whitchurch; Frances J Evesson; Sandra T Cooper
Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair.

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2013: Nigel F Clarke; Mark Davis; Kimberly Amburgey; Sandra I Camelo-Piragua; Eric P Hoffman; Akanchha Kesari; Nigel G Laing; Nicole Monnier; Kathryn N North; Jaya Punetha; James Teener; Leigh B Waddell; James Dowling
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.
Neuromuscular disorders : NMD 2013;23(5):432-6.
2013: Emily C Oates; Jonathan M Payne; Nigel F Clarke; Sheryl L Foster; Kathryn N North
Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge.
American journal of medical genetics. Part A 2013;161(4):659-66.
2013: Angela Lek; Frances A Lemckert; Ann-Katrin Lueders; Kathryn N North; Gregory M I Redpath; Lynne Turnbull; Cynthia B Whitchurch; Frances J Evesson; Sandra T Cooper
Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2013;33(12):5085-94.
2013: Nancy Mokbel; Nicole Monnier; Kathryn N North; Kristen J Nowak; Coen Ottenheijm; Gianina Ravenscroft; Jens Reimann; Jill Trewhella; Mariz Vainzof; Carina Wallgren-Pettersson; Nan Yang; Andoni Echaniz-Laguna; Mikaela Grönholm; Biljana Ilkovski; Cy M Jeffries; Michaela Kreissl; Nigel G Laing; Vilma-Lotta Lehtokari; Elina Lemola; Pascale Marcorelles; Steve Marston; Minttu Marttila; Elyshia McNamara; Massimiliano Memo; Dominique Menard; Nigel F Clarke
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Brain : a journal of neurology 2013;136(Pt 2):494-507.
2013: Jonathan M Payne; E Arthur Shores; Belinda Barton; Kathryn N North
Paired associate learning in children with neurofibromatosis type 1: implications for clinical trials.
Journal of neurology 2013;260(1):214-20.
2012: Simone L Ardern-Holmes; Kathryn N North
Treatment for plexiform neurofibromas in patients with NF1.
The lancet oncology 2012;13(12):1175-6.
2012: Nigel F Clarke; Andrew Kornberg; Martin Lammens; Catriona McLean; Lilian T L Sie; Bregje W M van Bon; Leigh B Waddell; Damian Clark; Kathryn N North
Mutations in TPM2 and congenital fibre type disproportion.
Neuromuscular disorders : NMD 2012;22(11):955-8.
2012: Jonathan M Payne; Natalie A Pride; Shelley S Arnold; Kathryn N North
Does attention-deficit-hyperactivity disorder exacerbate executive dysfunction in children with neurofibromatosis type 1?
Developmental medicine and child neurology 2012;54(10):898-904.
2012: Emily C Oates; Stephen Reddel; Michael L Rodriguez; Melanie Bahlo; Nigel F Clarke; Luke C Gandolfo; Simon H Hawke; Shireen R Lamandé; Kathryn N North
Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.
Brain : a journal of neurology 2012;135(Pt 6):1714-23.
2012: Vincent B Anderson; Dominic A Fitzgerald; David A Joffe; Jennifer A McKenzie; Kathryn N North; C Seton; Richard I Webster; Helen K Young
Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders.
Neuromuscular disorders : NMD 2012;22(6):528-33.
2012: Manoj P Menezes; Kathryn N North
Inherited neuromuscular disorders: pathway to diagnosis.
Journal of paediatrics and child health 2012;48(6):458-65.
2012: M P Menezes; D Mowat; Kathryn N North; L B Waddell; R Webster; S Cooper; A Corbett; F J Evesson; M Harbord; H M Johnston; K Jones; M C Kiernan; Nigel F Clarke
Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.
Neurology 2012;78(16):1258-63.
2012: Angela Lek; Kathryn N North; R Bryan Sutton; Frances J Evesson; Sandra T Cooper
Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair.
Traffic (Copenhagen, Denmark) 2012;13(2):185-94.
2012: Natalie A Pride; Jonathan M Payne; Kathryn N North
The impact of ADHD on the cognitive and academic functioning of children with NF1.
Developmental neuropsychology 2012;37(7):590-600.
2011: Leigh B Waddell; Min-Xia Wang; Xi F Zheng; Susan Arbuckle; Carsten G Bönnemann; Frances J Evesson; Ying Hu; Monkol Lek; Kathryn N North; Robert L Smith; Jenny Tran; Nigel F Clarke
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
Neuromuscular disorders : NMD 2011;21(11):776-81.
2011: Nan Yang; Kathy Zhu; Richard L Prince; Kate G R Quinlan; Joanna M Raftery; Aaron Schindeler; Jane T Seto; Scott G Wilson; Dominic Balasuriya; Yemima Berman; Jacqueline R Center; John A Eisman; Marshall Hogarth; Peter J Houweling; Monkol Lek; David G Little; Daniel G MacArthur; Michelle M McDonald; Alyson R Morse; Tuan V Nguyen; Kathryn N North
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse.
Bone 2011;49(4):790-8.
2011: Jane T Seto; Nan Yang; Xi F Zheng; Kate G R Quinlan; Joanna M Raftery; Fleur Garton; Sean M Garvey; Michael A Hauser; Stewart I Head; Peter J Houweling; Monkol Lek; Daniel G MacArthur; Kathryn N North
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.
Human molecular genetics 2011;20(15):2914-27.
2011: Leigh B Waddell; Frances A Lemckert; Xi F Zheng; Jenny Tran; Frances J Evesson; Joanne M Hawkes; Angela Lek; Neil E Street; Peihui Lin; Nigel F Clarke; Andrew P Landstrom; Michael J Ackerman; Noah Weisleder; Jianjie Ma; Kathryn N North; Sandra T Cooper
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.
Journal of neuropathology and experimental neurology 2011;70(4):302-13.
2011: Jane T Seto; Stephen Chan; Nigel Turner; Daniel G MacArthur; Joanna M Raftery; Yemima Berman; Kate G R Quinlan; Gregory J Cooney; Stewart Head; Nan Yang; Kathryn N North
The effect of α-actinin-3 deficiency on muscle aging.
Experimental gerontology 2011;46(4):292-302.
2011: Harriet P Lo; Enrico Bertini; Massimiliano Mirabella; Ana Domazetovska; Russell C Dale; Stefania Petrini; Adele D'Amico; Enza Maria Valente; Rita Barresi; Mark Roberts; Giulia Tozzi; Giorgio Tasca; Sandra T Cooper; Volker Straub; Kathryn N North
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies.
Neuromuscular disorders : NMD 2011;21(3):194-203.
2011: Jonathan M Payne; E Arthur Shores; Shelley L Hyman; Kathryn N North
Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior.
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2011;17(4):313-29.
2010: Nyamkhishig Sambuughin; Kyle S Yau; Montse Olivé; Rachael M Duff; Munkhuu Bayarsaikhan; Shajia Lu; Laura Gonzalez-Mera; Padma Sivadorai; Kristen J Nowak; Gianina Ravenscroft; Frank L Mastaglia; Kathryn N North; Biljana Ilkovski; Hannie Kremer; Martin Lammens; Baziel G M van Engelen; Vicki Fabian; Phillipa Lamont; Mark R Davis; Nigel G Laing; Lev G Goldfarb
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
American journal of human genetics 2010;87(6):842-7.
2010: Frances J Evesson; Rachel Peat; Angela Lek; Fabienne Brilot; Harriet P Lo; Russell C Dale; Robert G Parton; Kathryn N North; Sandra T Cooper
Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway.
The Journal of biological chemistry 2010;285(37):28529-39.
2010: Yemima Berman; Kathryn N North
A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism.
Physiology (Bethesda, Md.) 2010;25(4):250-9.
2010: Fleur Garton; Jane T Seto; Kathryn N North; Nan Yang
Validation of an automated computational method for skeletal muscle fibre morphometry analysis.
Neuromuscular disorders : NMD 2010;20(8):540-7.
2010: Monkol Lek; Kathryn N North
Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors.
FEBS letters 2010;584(14):2974-80.
2010: Nigel F Clarke; Leigh B Waddell; Sandra T Cooper; Margaret Perry; Robert L L Smith; Andrew J Kornberg; Francesco Muntoni; Suzanne Lillis; Volker Straub; Kate Bushby; Michela Guglieri; Mary D King; Michael A Farrell; Isabelle Marty; Joel Lunardi; Nicole Monnier; Kathryn N North
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Human mutation 2010;31(7):E1544-50.
2010: Leigh B Waddell; Michaela Kreissl; Andrew Kornberg; Paul Kennedy; Catriona McLean; Annick Labarre-Vila; Nicole Monnier; Kathryn N North; Nigel F Clarke
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.
Neuromuscular disorders : NMD 2010;20(7):464-6.
2010: Aurélie Vandebrouck; Ana Domazetovska; Nancy Mokbel; Sandra T Cooper; Biljana Ilkovski; Kathryn N North
In vitro analysis of rod composition and actin dynamics in inherited myopathies.
Journal of neuropathology and experimental neurology 2010;69(5):429-41.
2010: Rachel D Susman; Susana Quijano-Roy; Nan Yang; Richard Webster; Nigel F Clarke; Jim Dowling; Marina Kennerson; Garth Nicholson; Valerie Biancalana; Biljana Ilkovski; Kevin M Flanigan; Susan Arbuckle; Chandra Malladi; Phillip Robinson; Steven Vucic; Michèle Mayer; Norma B Romero; Jon Andoni Urtizberea; Federico García-Bragado; Pascale Guicheney; Marc Bitoun; Robert-Yves Carlier; Kathryn N North
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Neuromuscular disorders : NMD 2010;20(4):229-37.
2010: Kate G R Quinlan; Jane T Seto; Nigel Turner; Aurelie Vandebrouck; Matthias Floetenmeyer; Daniel G Macarthur; Joanna M Raftery; Monkol Lek; Nan Yang; Robert G Parton; Gregory J Cooney; Kathryn N North
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.
Human molecular genetics 2010;19(7):1335-46.
2010: Monkol Lek; Daniel G MacArthur; Nan Yang; Kathryn N North
Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins.
Molecular biology and evolution 2010;27(4):773-80.
2010: Kristy J Rose; Joshua Burns; Kathryn N North
Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of Charcot-Marie-Tooth disease type 1A.
Journal of child neurology 2010;25(4):463-8.
2010: Jonathan M Payne; Mahendranath D Moharir; Richard Webster; Kathryn N North
Brain structure and function in neurofibromatosis type 1: current concepts and future directions.
Journal of neurology, neurosurgery, and psychiatry 2010;81(3):304-9.
2010: Paula Bray; Anita C Bundy; Monique M Ryan; Kathryn N North
Feasibility of a computerized method to measure quality of "everyday" life in children with neuromuscular disorders.
Physical & occupational therapy in pediatrics 2010;30(1):43-53.
2010: Angela Lek; Monkol Lek; Kathryn N North; Sandra T Cooper
Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.
BMC evolutionary biology 2010;10():231.
2010: Kristy J Rose; Jacqueline Raymond; Kathryn Refshauge; Kathryn N North; Joshua Burns
Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial.
Journal of physiotherapy 2010;56(2):113-9.
2010: Monkol Lek; Kate G R Quinlan; Kathryn N North
The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins.
BioEssays : news and reviews in molecular, cellular and developmental biology 2010;32(1):17-25.
2009: Tanya Butler; Jonathan R Egan; Fabian G Graf; Carol G Au; Aisling C McMahon; Kathryn N North; David S Winlaw
Dysfunction induced by ischemia versus edema: does edema matter?
The Journal of thoracic and cardiovascular surgery 2009;138(1):141-7, 147.e1.
2009: Michele Bastiani; Libin Liu; Michelle M Hill; Mark P Jedrychowski; Susan Nixon; Harriet Lo; Daniel Abankwa; Robert Luetterforst; Manuel Fernandez-Rojo; Michael R Breen; Steven P Gygi; Jorgen Vinten; Piers J Walser; Kathryn N North; John F Hancock; Paul F Pilch; Robert G Parton
MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes.
The Journal of cell biology 2009;185(7):1259-73.
2009: Jonathan R Egan; Tanya Butler; Andrew D Cole; Smartin Abraham; John S Murala; David Baines; Neil Street; Lance Thompson; Oliver Biecker; John Dittmer; Sandra Cooper; Carol G Au; Kathryn N North; David S Winlaw
Myocardial membrane injury in pediatric cardiac surgery: An animal model.
The Journal of thoracic and cardiovascular surgery 2009;137(5):1154-62.
2009: Nigel F Clarke; Ana Domazetovska; Leigh Waddell; Andrew Kornberg; Catriona McLean; Kathryn N North
Cap disease due to mutation of the beta-tropomyosin gene (TPM2).
Neuromuscular disorders : NMD 2009;19(5):348-51.
2009: Kristy J Rose; Joshua Burns; Kathryn N North
Relationship between foot strength and motor function in preschool-age children.
Neuromuscular disorders : NMD 2009;19(2):104-7.
2008: Alison G Compton; Douglas E Albrecht; Jane T Seto; Sandra T Cooper; Biljana Ilkovski; Kristi J Jones; Daniel Challis; David Mowat; Barbara Ranscht; Melanie Bahlo; Stanley Froehner; Kathryn N North
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
American journal of human genetics 2008;83(6):714-24.
2008: Joshua Burns; Paula Bray; Lauren A Cross; Kathryn N North; Monique M Ryan; Robert Ouvrier
Hand involvement in children with Charcot-Marie-Tooth disease type 1A.
Neuromuscular disorders : NMD 2008;18(12):970-3.
2008: Paul T Martin; G Diane Shelton; Peter J Dickinson; Beverly K Sturges; Rui Xu; Richard A LeCouteur; Ling T Guo; Robert A Grahn; Harriet Lo; Kathryn N North; Richard Malik; Eva Engvall; Leslie A Lyons
Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.
Neuromuscular disorders : NMD 2008;18(12):942-52.
2008: Jonathan R Egan; Tanya Butler; Andrew D Cole; Avetis Aharonyan; David Baines; Neil Street; Manchula Navaratnam; Oliver Biecker; Carla Zazulak; Carol G Au; Yee Mun Tan; Kathryn N North; David S Winlaw
Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: a pediatric animal model.
The Journal of thoracic and cardiovascular surgery 2008;136(5):1265-73, 1273.e1-2.
2008: A G Cairns; Kathryn N North
Cerebrovascular dysplasia in neurofibromatosis type 1.
Journal of neurology, neurosurgery, and psychiatry 2008;79(10):1165-70.
2008: Rishika A Pace; Rachel Peat; Naomi L Baker; Laura Zamurs; Matthias Mörgelin; Melita Irving; Naomi E Adams; John F Bateman; David Mowat; Nicholas J C Smith; Phillipa J Lamont; Steven A Moore; Katherine D Mathews; Kathryn N North; Shireen R Lamandé
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
Annals of neurology 2008;64(3):294-303.
2008: Biljana Ilkovski; Nancy Mokbel; Raymond A Lewis; Kendall Walker; Kristen J Nowak; Ana Domazetovska; Nigel G Laing; Velia M Fowler; Kathryn N North; Sandra T Cooper
Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.
Journal of neuropathology and experimental neurology 2008;67(9):867-77.
2008: Carol G Au; Tanya Butler; Jonathan R Egan; Sandra T Cooper; Harriet Lo; Alison G Compton; Kathryn N North; David S Winlaw
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.
Acta neuropathologica 2008;116(3):235-46.
2008: Sharon E Watt; Arthur Shores; Kathryn N North
An examination of lexical and sublexical reading skills in children with neurofibromatosis type 1.
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2008;14(5):401-18.
2008: Rachel Peat; Jozef Gécz; Justin R Fallon; Patrick S Tarpey; Raffaella Smith; Andrew Futreal; Michael R Stratton; Shireen R Lamandé; Nan Yang; Kathryn N North
Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders.
Neuromuscular disorders : NMD 2008;18(8):606-9.
2008: Rachel Peat; J M Smith; Alison G Compton; N L Baker; R A Pace; D J Burkin; S J Kaufman; S R Lamandé; Kathryn N North
Diagnosis and etiology of congenital muscular dystrophy.
Neurology 2008;71(5):312-21.
2008: Kristy J Rose; Joshua Burns; Monique M Ryan; Robert Ouvrier; Kathryn N North
Reliability of quantifying foot and ankle muscle strength in very young children.
Muscle & nerve 2008;37(5):626-31.
2008: Daniel G MacArthur; Jane T Seto; Stephen Chan; Kate G R Quinlan; Joanna M Raftery; Nigel Turner; Megan D Nicholson; Anthony J Kee; Edna C Hardeman; Peter W Gunning; Gregory J Cooney; Stewart I Head; Nan Yang; Kathryn N North
An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance.
Human molecular genetics 2008;17(8):1076-86.
2008: Nigel F Clarke; Hanna Kolski; Danielle E Dye; Esther Lim; Robert L L Smith; Rakesh Patel; Michael C Fahey; Rémi Bellance; Norma B Romero; Edward S Johnson; Annick Labarre-Vila; Nicole Monnier; Nigel G Laing; Kathryn N North
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
Annals of neurology 2008;63(3):329-37.
2008: Helen K Young; Belinda A Barton; Susan Waisbren; Lourdes Portales Dale; Monique M Ryan; Richard I Webster; Kathryn N North
Cognitive and psychological profile of males with Becker muscular dystrophy.
Journal of child neurology 2008;23(2):155-62.
2008: Kathryn N North; Nigel G Laing
Skeletal muscle alpha-actin diseases.
Advances in experimental medicine and biology 2008;642():15-27.
2008: Nicole Vlahovich; Galina Schevzov; Visalini Nair-Shaliker; Biljana Ilkovski; Stanley T Artap; Josephine E Joya; Anthony J Kee; Kathryn N North; Peter W Gunning; Edna C Hardeman
Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle.
Cell motility and the cytoskeleton 2008;65(1):73-85.
2008: Harriet Lo; Sandra T Cooper; Frances J Evesson; Jane T Seto; Maria Chiotis; Valerie Tay; Alison G Compton; Anita G Cairns; Alistair Corbett; Daniel G MacArthur; Nan Yang; Katrina Reardon; Kathryn N North
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
Neuromuscular disorders : NMD 2008;18(1):34-44.
2007: Ana Domazetovska; Biljana Ilkovski; Sandra T Cooper; Majid Ghoddusi; Edna C Hardeman; Laurie S Minamide; Peter W Gunning; James R Bamburg; Kathryn N North
Mechanisms underlying intranuclear rod formation.
Brain : a journal of neurology 2007;130(Pt 12):3275-84.
2007: Ana Domazetovska; Biljana Ilkovski; Vikash Kumar; Valentina A Valova; Aurelie Vandebrouck; David O Hutchinson; Phillip J Robinson; Sandra T Cooper; John C Sparrow; Michelle Peckham; Kathryn N North
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
Annals of neurology 2007;62(6):597-608.
2007: Naomi L Baker; Matthias Mörgelin; Rishika A Pace; Rachel Peat; Naomi E Adams; R J McKinlay Gardner; Lewis P Rowland; Geoffrey Miller; Peter De Jonghe; Berten Ceulemans; Mark C Hannibal; Matthew Edwards; Elizabeth M Thompson; Richard Jacobson; Ros C M Quinlivan; Salim Aftimos; Andrew J Kornberg; Kathryn N North; John F Bateman; Shireen R Lamandé
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Annals of neurology 2007;62(4):390-405.
2007: Daniel G MacArthur; Jane T Seto; Joanna M Raftery; Kate G Quinlan; Gavin A Huttley; Jeff W Hook; Frances A Lemckert; Anthony J Kee; Michael R Edwards; Yemima Berman; Edna C Hardeman; Peter W Gunning; Simon Easteal; Nan Yang; Kathryn N North
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.
Nature genetics 2007;39(10):1261-5.
2007: Shelley L Hyman; Deepak S Gill; E Arthur Shores; Adam Steinberg; Kathryn N North
T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning.
Journal of neurology, neurosurgery, and psychiatry 2007;78(10):1088-91.
2007: Rachel Peat; Naomi L Baker; Kristi J Jones; Kathryn N North; Shireen R Lamandé
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.
Neuromuscular disorders : NMD 2007;17(7):547-57.
2007: Sandra T Cooper; Eddy Kizana; Jonathon D Yates; Harriet Lo; Nan Yang; Zhan He Wu; Ian E Alexander; Kathryn N North
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis.
Neuromuscular disorders : NMD 2007;17(4):276-84.
2007: H K Young; A Lowe; D A Fitzgerald; C Seton; Karen A Waters; E Kenny; Linda Hynan; Susan T Iannaccone; Kathryn N North; Monique M Ryan
Outcome of noninvasive ventilation in children with neuromuscular disease.
Neurology 2007;68(3):198-201.
2007: Daniel G MacArthur; Kathryn N North
ACTN3: A genetic influence on muscle function and athletic performance.
Exercise and sport sciences reviews 2007;35(1):30-4.
2006: Meena Shingde; Penelope J Spring; Adam Maxwell; Edward J Wills; Clive Harper; Danielle E Dye; Nigel G Laing; Kathryn N North
Myosin storage (hyaline body) myopathy: a case report.
Neuromuscular disorders : NMD 2006;16(12):882-6.
2006: Shelley L Hyman; E Arthur Shores; Kathryn N North
Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder.
Developmental medicine and child neurology 2006;48(12):973-7.
2006: Deepak S Gill; Shelley L Hyman; Adam Steinberg; Kathryn N North
Age-related findings on MRI in neurofibromatosis type 1.
Pediatric radiology 2006;36(10):1048-56.
2006: Jonathan R Egan; Tanya Butler; Carol G Au; Yee Mun Tan; Kathryn N North; David S Winlaw
Myocardial water handling and the role of aquaporins.
Biochimica et biophysica acta 2006;1758(8):1043-52.
2006: Tanya Butler; Carol G Au; Baoxue Yang; Jonathan R Egan; Yee Mun Tan; Edna C Hardeman; Kathryn N North; A S Verkman; David S Winlaw
Cardiac aquaporin expression in humans, rats, and mice.
American journal of physiology. Heart and circulatory physiology 2006;291(2):H705-13.
2006: Nigel F Clarke; Warren Kidson; Susana Quijano-Roy; Brigitte Estournet; Ana Ferreiro; Pascale Guicheney; James I Manson; Andrew J Kornberg; Lloyd K Shield; Kathryn N North
SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
Annals of neurology 2006;59(3):546-52.
2006: David O Hutchinson; Amanda Charlton; Nigel G Laing; Biljana Ilkovski; Kathryn N North
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
Neuromuscular disorders : NMD 2006;16(2):113-21.
2006: Delia J Hernández-Deviez; Sally Martin; Steven H Laval; Harriet Lo; Sandra T Cooper; Kathryn N North; Kate Bushby; Robert Parton
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.
Human molecular genetics 2006;15(1):129-42.
2005: Biljana Ilkovski; Sophie Clement; Caroline Sewry; Kathryn N North; Sandra T Cooper
Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.
Neuromuscular disorders : NMD 2005;15(12):829-35.
2005: Nigel F Clarke; Robert L L Smith; Melanie Bahlo; Kathryn N North
A novel X-linked form of congenital fiber-type disproportion.
Annals of neurology 2005;58(5):767-72.
2005: Shelley L Hyman; Arthur Shores; Kathryn N North
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1.
Neurology 2005;65(7):1037-44.
2005: Alison G Compton; Sandra T Cooper; Penelope M Hill; Nan Yang; Stanley Froehner; Kathryn N North
The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders.
Journal of neuropathology and experimental neurology 2005;64(4):350-61.
2005: Daniel G MacArthur; Kathryn N North
Genes and human elite athletic performance.
Human genetics 2005;116(5):331-9.
2005: Naomi L Baker; Matthias Mörgelin; Rachel Peat; Nathalie Goemans; Kathryn N North; John F Bateman; Shireen R Lamandé
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Human molecular genetics 2005;14(2):279-93.
2005: Mark Corbett; P Anthony Akkari; Ana Domazetovska; Sandra T Cooper; Kathryn N North; Nigel G Laing; Peter W Gunning; Edna C Hardeman
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.
Annals of neurology 2005;57(1):42-9.
2004: Nigel G Laing; Nigel F Clarke; Danielle E Dye; Khema Liyanage; Kendall R Walker; Yasuaki Kobayashi; Shuichi Shimakawa; Tohru Hagiwara; Robert Ouvrier; John C Sparrow; Ichizo Nishino; Kathryn N North; Ikuya Nonaka
Actin mutations are one cause of congenital fibre type disproportion.
Annals of neurology 2004;56(5):689-94.
2004: Carina Wallgren-Pettersson; Katarina Pelin; Kristen J Nowak; Francesco Muntoni; Norma B Romero; Hans H Goebel; Kathryn N North; Alan H Beggs; Nigel G Laing
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Neuromuscular disorders : NMD 2004;14(8-9):461-70.
2004: Biljana Ilkovski; Kristen J Nowak; Ana Domazetovska; Adam L Maxwell; Sophie Clement; Kay E Davies; Nigel G Laing; Kathryn N North; Sandra T Cooper
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Human molecular genetics 2004;13(16):1727-43.
2004: Daniel G MacArthur; Kathryn N North
A gene for speed? The evolution and function of alpha-actinin-3.
BioEssays : news and reviews in molecular, cellular and developmental biology 2004;26(7):786-95.
2004: Sandra T Cooper; A L Maxwell; Eddy Kizana; Majid Ghoddusi; Edna C Hardeman; I E Alexander; D G Allen; Kathryn N North
C2C12 co-culture on a fibroblast substratum enables sustained survival of contractile, highly differentiated myotubes with peripheral nuclei and adult fast myosin expression.
Cell motility and the cytoskeleton 2004;58(3):200-11.
2004: Carol G Au; Sandra T Cooper; Harriet Lo; Alison G Compton; Nan Yang; E Marelyn Wintour; Kathryn N North; David S Winlaw
Expression of aquaporin 1 in human cardiac and skeletal muscle.
Journal of molecular and cellular cardiology 2004;36(5):655-62.
2003: Nigel F Clarke; Kathryn N North
Congenital fiber type disproportion--30 years on.
Journal of neuropathology and experimental neurology 2003;62(10):977-89.
2003: K J Jones; Alison G Compton; Nan Yang; M A Mills; MF Peters; D Mowat; Louis Kunkel; Stanley Froehner; Kathryn N North
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.
Neuromuscular disorders : NMD 2003;13(6):456-67.
2003: Sandra T Cooper; Harriet Lo; Kathryn N North
Single section Western blot: improving the molecular diagnosis of the muscular dystrophies.
Neurology 2003;61(1):93-7.
2003: Shelley L Hyman; Deepak S Gill; E Arthur Shores; Adam Steinberg; Pamela Joy; S V Gibikote; Kathryn N North
Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1.
Neurology 2003;60(7):1139-45.
2003: Monique M Ryan; Biljana Ilkovski; Corinne D Strickland; C Schnell; Despina Sanoudou; C Midgett; R Houston; D Muirhead; X Dennett; Lloyd K Shield; Umberto De Girolami; Susan T Iannaccone; Nigel G Laing; Kathryn N North; Alan H Beggs
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
Neurology 2003;60(4):665-73.
2001: K J Jones; G Morgan; H Johnston; V Tobias; Robert Ouvrier; I Wilkinson; Kathryn N North
The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.
Journal of medical genetics 2001;38(10):649-57.
2001: Monique M Ryan; C Schnell; Corinne D Strickland; Lloyd K Shield; G Morgan; Susan T Iannaccone; Nigel G Laing; Alan H Beggs; Kathryn N North
Nemaline myopathy: a clinical study of 143 cases.
Annals of neurology 2001;50(3):312-20.
2001: Biljana Ilkovski; Sandra T Cooper; K Nowak; Monique M Ryan; Nan Yang; C Schnell; Hayley J Durling; L G Roddick; I Wilkinson; Andrew J Kornberg; K J Collins; G Wallace; Peter W Gunning; Edna C Hardeman; Nigel G Laing; Kathryn N North
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
American journal of human genetics 2001;68(6):1333-43.
2001: Mark Corbett; C Stephen Robinson; G F Dunglison; Nan Yang; Josephine E Joya; A W Stewart; C Schnell; Peter W Gunning; Kathryn N North; Edna C Hardeman
A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.
Human molecular genetics 2001;10(4):317-28.
2000: C Schnell; A Kan; Kathryn N North
'An artefact gone awry': identification of the first case of nemaline myopathy by Dr R.D.K. Reye.
Neuromuscular disorders : NMD 2000;10(4-5):307-12.
1999: Kristen J Nowak; Duangrurdee Wattanasirichaigoon; Hans H Goebel; M Wilce; Katarina Pelin; Kristian Donner; Rebecca L Jacob; Christoph Hübner; K Oexle; J R Anderson; C M Verity; Kathryn N North; Susan T Iannaccone; C R Müller; P Nürnberg; Francesco Muntoni; Caroline Sewry; I Hughes; Rebecca Sutphen; A G Lacson; Kathryn J Swoboda; J Vigneron; Carina Wallgren-Pettersson; Alan H Beggs; Nigel G Laing
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nature genetics 1999;23(2):208-12.
1999: Monique M Ryan; P Taylor; Jennifer A Donald; Robert Ouvrier; G Morgan; G Danta; Michael F Buckley; Kathryn N North
A novel syndrome of episodic muscle weakness maps to xp22.3.
American journal of human genetics 1999;65(4):1104-13.
1999: Kathryn N North; N Yang; Duangrurdee Wattanasirichaigoon; M Mills; Simon Easteal; Alan H Beggs
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
Nature genetics 1999;21(4):353-4.
1998: Kathryn N North
Neurofibromatosis 1 in childhood.
Seminars in pediatric neurology 1998;5(4):231-42.
1998: Kathryn N North
Clinical aspects of neurofibromatosis 1.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1998;2(5):223-31.
1997: Kathryn N North; N G Laing; Carina Wallgren-Pettersson
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.
Journal of medical genetics 1997;34(9):705-13.
1997: K J Jones; Kathryn N North
Recent advances in diagnosis of the childhood muscular dystrophies.
Journal of paediatrics and child health 1997;33(3):195-201.
1997: K J Jones; Kathryn N North
External ophthalmoplegia in neuromuscular disorders: case report and review of the literature.
Neuromuscular disorders : NMD 1997;7(3):143-51.
1996: Kathryn N North; Alan H Beggs
Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy.
Neuromuscular disorders : NMD 1996;6(4):229-35.
1996: Kathryn N North; L A Specht; R K Sethi; Frederic Shapiro; Alan H Beggs
Congenital muscular dystrophy associated with merosin deficiency.
Journal of child neurology 1996;11(4):291-5.
1996: Kathryn N North; G Miller; S T Iannaccone; P R Clemens; D A Chad; I Bella; T W Smith; Alan H Beggs; L A Specht
Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy.
Neurology 1996;46(2):461-5.