Works by North, Kathryn N.

Results: 107

Can in-the-moment diary methods measure health-related quality of life in Duchenne muscular dystrophy?

Published in:

2017

By:

Bray, Paula;
Bundy, Anita C.;
Ryan, Monique M.;
North, Kathryn N.

Publication type:

journal article

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy.

Published in:

JAMA Neurology, 2015, v. 72, n. 12, p. 1424, doi. 10.1001/jamaneurol.2015.2274

By:

Ghaoui, Roula;
Cooper, Sandra T.;
Lek, Monkol;
Jones, Kristi;
Corbett, Alastair;
Reddel, Stephen W.;
Needham, Merrilee;
Liang, Christina;
Waddell, Leigh B.;
Nicholson, Garth;
O'Grady, Gina;
Kaur, Simranpreet;
Ong, Royston;
Davis, Mark;
Sue, Carolyn M.;
Laing, Nigel G.;
North, Kathryn N.;
MacArthur, Daniel G.;
Clarke, Nigel F.

Publication type:

Article

Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair.

Published in:

Traffic, 2012, v. 13, n. 2, p. 185, doi. 10.1111/j.1600-0854.2011.01267.x

By:

Lek, Angela;
Evesson, Frances J.;
Sutton, R. Bryan;
North, Kathryn N.;
Cooper, Sandra T.

Publication type:

Article

Sensory Processing in Children and Adolescents with Neurofibromatosis Type 1.

Published in:

Cancers, 2023, v. 15, n. 14, p. 3612, doi. 10.3390/cancers15143612

By:

Pride, Natalie A.;
Haebich, Kristina M.;
Walsh, Karin S.;
Lami, Francesca;
Rouel, Melissa;
Maier, Alice;
Chisholm, Anita K.;
Lorenzo, Jennifer;
Hearps, Stephen J. C.;
North, Kathryn N.;
Payne, Jonathan M.

Publication type:

Article

Delineating Visual Habituation Profiles in Preschoolers with Neurofibromatosis Type 1 and Autism Spectrum Disorder: A Cross-Syndrome Study.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 5, p. 1998, doi. 10.1007/s10803-023-05913-y

By:

Hocking, Darren R.;
Sun, Xiaoyun;
Haebich, Kristina;
Darke, Hayley;
North, Kathryn N.;
Vivanti, Giacomo;
Payne, Jonathan M.

Publication type:

Article

Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1.

Published in:

Journal of Autism & Developmental Disorders, 2023, v. 53, n. 7, p. 2835, doi. 10.1007/s10803-022-05571-6

By:

Chisholm, Anita K.;
Lami, Francesca;
Haebich, Kristina M.;
Ure, Alex;
Brignell, Amanda;
Maloof, Tiba;
Pride, Natalie A.;
Walsh, Karin S.;
Maier, Alice;
Rouel, Melissa;
Granader, Yael;
Barton, Belinda;
Darke, Hayley;
Fuelscher, Ian;
Dabscheck, Gabriel;
Anderson, Vicki A.;
Williams, Katrina;
North, Kathryn N.;
Payne, Jonathan M.

Publication type:

Article

Inherited neuromuscular disorders: Pathway to diagnosis.

Published in:

Journal of Paediatrics & Child Health, 2012, v. 48, n. 6, p. 458, doi. 10.1111/j.1440-1754.2011.02210.x

By:

Menezes, Manoj P;
North, Kathryn N

Publication type:

Article

Health status of boys with Duchenne muscular dystrophy: A parent's perspective.

Published in:

Journal of Paediatrics & Child Health, 2011, v. 47, n. 8, p. 557, doi. 10.1111/j.1440-1754.2011.02022.x

By:

Bray, Paula;
Bundy, Anita C.;
Ryan, Monique M.;
North, Kathryn N.;
Burns, Joshua

Publication type:

Article

Health-related Quality of Life in Boys With Duchenne Muscular Dystrophy: Agreement Between Parents and Their Sons.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 10, p. 1188, doi. 10.1177/0883073809357624

By:

Bray, Paula;
Bundy, Anita C.;
Ryan, Monique M.;
North, Kathryn N.;
Everett, Anna

Publication type:

Article

Corpus Callosum Morphology and Its Relationship to Cognitive Function in Neurofibromatosis Type 1.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 7, p. 834, doi. 10.1177/0883073809350723

By:

Pride, Natalie;
Payne, Jonathan M.;
Webster, Richard;
Shores, E. Arthur;
Rae, Caroline;
North, Kathryn N.

Publication type:

Article

Factors Associated With Foot and Ankle Strength in Healthy Preschool-Age Children and Age-Matched Cases of Charcot-Marie-Tooth Disease Type 1A.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 4, p. 463, doi. 10.1177/0883073809340698

By:

Rose, Kristy J.;
Burns, Joshua;
North, Kathryn N.

Publication type:

Article

Dietary L-Tyrosine Supplementation in Nemaline Myopathy.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 6, p. 609, doi. 10.1177/0883073807309794

By:

Ryan, Monique M.;
Sy, Catherine;
Rudge, Sian;
Ellaway, Carolyn;
Ketteridge, David;
Roddick, Laurence C.;
Iannaccone, Susan T.;
Kornberg, Andrew J.;
North, Kathryn N.

Publication type:

Article

Cognitive and Psychological Profile of Males With Becker Muscular Dystrophy.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 2, p. 155, doi. 10.1177/0883073807307975

By:

Young, Helen K.;
Barton, Belinda A.;
Waisbren, Susan;
Dale, Lourdes Portales;
Ryan, Monique M.;
Webster, Richard I.;
North, Kathryn N.

Publication type:

Article

Congenital Muscular Dystrophy Associated With Merosin Deficiency.

Published in:

Journal of Child Neurology, 1996, v. 11, n. 4, p. 291, doi. 10.1177/088307389601100406

By:

North, Kathryn N.;
Specht, Linda A.;
Sethi, Rajesh K.;
Shapiro, Frederic;
Beggs, Alan H.

Publication type:

Article

Idiopathic Hypothalamic Dysfunction With Dilated Unresponsive Pupils: Report of Two Cases.

Published in:

Journal of Child Neurology, 1994, v. 9, n. 3, p. 320, doi. 10.1177/088307389400900320

By:

North, Kathryn N.;
Ouvrier, Robert A.;
McLean, Catriona A.;
Hopkins, Ian J.

Publication type:

Article

Pseudoseizures Caused by Hyperventilation Resembling Absence Epilepsy.

Published in:

Journal of Child Neurology, 1990, v. 5, n. 4, p. 288, doi. 10.1177/088307389000500403

By:

North, Kathryn N.;
Ouvrier, Robert A.;
Nugent, Maureen

Publication type:

Article

Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis.

Published in:

Neuropsychology Review, 2018, v. 28, n. 3, p. 317, doi. 10.1007/s11065-018-9380-x

By:

Chisholm, Anita K.;
Anderson, Vicki A.;
Pride, Natalie A.;
Malarbi, Stephanie;
North, Kathryn N.;
Payne, Jonathan M.

Publication type:

Article

Profiling the Word Reading Abilities of School-Age Children with Neurofibromatosis Type 1.

Published in:

Journal of the International Neuropsychological Society, 2021, v. 27, n. 5, p. 484, doi. 10.1017/S135561772000106X

By:

Arnold, Shelley S.;
Payne, Jonathan M.;
McArthur, Genevieve;
North, Kathryn N.;
Barton, Belinda

Publication type:

Article

Atypical Local Interference Affects Global Processing in Children with Neurofibromatosis Type 1.

Published in:

Journal of the International Neuropsychological Society, 2017, v. 23, n. 5, p. 446, doi. 10.1017/S1355617717000224

By:

Payne, Jonathan M.;
Porter, Melanie A.;
Bzishvili, Samantha;
North, Kathryn N.

Publication type:

Article

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity.

Published in:

Annals of Neurology, 2008, v. 64, n. 3, p. 294, doi. 10.1002/ana.21439

By:

Pace, Rishika A.;
Peat, Rachel A.;
Baker, Naomi L.;
Zamurs, Laura;
Mörgelin, Matthias;
Irving, Melita;
Adams, Naomi E.;
Bateman, John F.;
Mowat, David;
Smith, Nicholas J. C.;
Lamont, Phillipa J.;
Moore, Steven A.;
Mathews, Katherine D.;
North, Kathryn N.;
Lamandé, Shireen R.

Publication type:

Article

Mutations in TPM3 are a common cause of congenital fiber type disproportion.

Published in:

Annals of Neurology, 2008, v. 63, n. 3, p. 329, doi. 10.1002/ana.21308

By:

Clarke, Nigel F.;
Kolski, Hanna;
Dye, Danielle E.;
Lim, Esther;
Smith, Robert L. L.;
Patel, Rakesh;
Fahey, Michael C.;
Bellance, Rémi;
Romero, Norma B.;
Johnson, Edward S.;
Labarre-Vila, Annick;
Monnier, Nicole;
Laing, Nigel G.;
North, Kathryn N.

Publication type:

Article

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.

Published in:

Annals of Neurology, 2007, v. 62, n. 6, p. 597, doi. 10.1002/ana.21200

By:

Domazetovska, Ana;
Ilkovski, Biljana;
Kumar, Vikash;
Valova, Valentina A.;
Vandebrouck, Aurelie;
Hutchinson, David O.;
Robinson, Phillip J.;
Cooper, Sandra T.;
Sparrow, John C.;
Peckham, Michelle;
North, Kathryn N.

Publication type:

Article

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

Published in:

Annals of Neurology, 2007, v. 62, n. 4, p. 390, doi. 10.1002/ana.21213

By:

Baker, Naomi L.;
Mörgelin, Matthias;
Pace, Rishika A.;
Peat, Rachel A.;
Adams, Naomi E.;
Gardner, R. J. McKinlay;
Rowland, Lewis P.;
Miller, Geoffrey;
De Jonghe, Peter;
Ceulemans, Berten;
Hannibal, Mark C.;
Edwards, Matthew;
Thompson, Elizabeth M.;
Jacobson, Richard;
Quinlivan, Ros C. M.;
Aftimos, Salim;
Kornberg, Andrew J.;
North, Kathryn N.;
Bateman, John F.;
Lamandé, Shireen R.

Publication type:

Article

SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance.

Published in:

Annals of Neurology, 2006, v. 59, n. 3, p. 546

By:

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

Publication type:

Article

A novel X‐linked form of congenital fiber‐type disproportion.

Published in:

Annals of Neurology, 2005, v. 58, n. 5, p. 767

By:

Nigel F. Clarke;
Robert L. L. Smith;
Melanie Bahlo;
Kathryn N. North

Publication type:

Article

Actin mutations are one cause of congenital fibre type disproportion.

Published in:

Annals of Neurology, 2004, v. 56, n. 5, p. 689

By:

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

Publication type:

Article

Nemaline myopathy: a clinical study of 143 cases.

Published in:

2001

By:

Ryan, Monique M.;
Schnell, Christina;
Strickland, Corinne D.;
Shield, Lloyd K.;
Morgan, Graeme;
Iannaccone, Susan T.;
Laing, Nigel G.;
Beggs, Alan H.;
North, Kathryn N.;
Ryan, M M;
Schnell, C;
Strickland, C D;
Shield, L K;
Morgan, G;
Iannaccone, S T;
Laing, N G;
Beggs, A H;
North, K N

Publication type:

journal article

Cerebrovascular complications in Ehlers-Danlos syndrome type IV.

Published in:

Annals of Neurology, 1995, v. 38, n. 6, p. 960, doi. 10.1002/ana.410380620

By:

North, Kathryn N.;
Whiteman, David A. H.;
Pepin, Melanie G.;
Byers, Peter H.

Publication type:

Article

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

Published in:

BMC Evolutionary Biology, 2010, v. 10, p. 231, doi. 10.1186/1471-2148-10-231

By:

Lek, Angela;
Lek, Monkol;
North, Kathryn N.;
Cooper, Sandra T.

Publication type:

Article

Feasibility of a Computerized Method to Measure Quality of “Everyday” Life in Children with Neuromuscular Disorders.

Published in:

Physical & Occupational Therapy in Pediatrics, 2010, v. 30, n. 1, p. 43, doi. 10.3109/01942630903294687

By:

Bray, Paula;
Bundy, Anita C.;
Ryan, Monique M.;
North, Kathryn N.

Publication type:

Article

Neuropsychological factors associated with performance on the rey-osterrieth complex figure test in children with neurofibromatosis type 1.

Published in:

Child Neuropsychology, 2024, v. 30, n. 2, p. 348, doi. 10.1080/09297049.2023.2199975

By:

Maier, Alice;
Pride, Natalie A.;
Hearps, Stephen J. C.;
Shah, Nijashree;
Porter, Melanie;
North, Kathryn N.;
Payne, Jonathan M.

Publication type:

Article

The mediating role of ADHD symptoms between executive function and social skills in children with neurofibromatosis type 1.

Published in:

Child Neuropsychology, 2022, v. 28, n. 3, p. 318, doi. 10.1080/09297049.2021.1976129

By:

Haebich, Kristina M.;
Dao, Duy P.;
Pride, Natalie A.;
Barton, Belinda;
Walsh, Karin S.;
Maier, Alice;
Chisholm, Anita K.;
Darke, Hayley;
Catroppa, Cathy;
Malarbi, Stephanie;
Wilkinson, Jake C.;
Anderson, Vicki A.;
North, Kathryn N.;
Payne, Jonathan M.

Publication type:

Article

Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 9, p. 1417, doi. 10.1093/hmg/ddab326

By:

Kiriaev, Leonit;
Houweling, Peter J;
North, Kathryn N;
Head, Stewart I

Publication type:

Article

Delineating the autistic phenotype in children with neurofibromatosis type 1.

Published in:

Molecular Autism, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13229-021-00481-3

By:

Chisholm, Anita K.;
Haebich, Kristina M.;
Pride, Natalie A.;
Walsh, Karin S.;
Lami, Francesca;
Ure, Alex;
Maloof, Tiba;
Brignell, Amanda;
Rouel, Melissa;
Granader, Yael;
Maier, Alice;
Barton, Belinda;
Darke, Hayley;
Dabscheck, Gabriel;
Anderson, Vicki A.;
Williams, Katrina;
North, Kathryn N.;
Payne, Jonathan M.

Publication type:

Article

Calpains, Cleaved Mini-Dysferlin<sub>C72</sub>, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair.

Published in:

Journal of Neuroscience, 2013, v. 33, n. 12, p. 5085, doi. 10.1523/JNEUROSCI.3560-12.2013

By:

Lek, Angela;
Evesson, Frances J.;
Lemckert, Frances A.;
Redpath, Gregory M. I.;
Lueders, Ann-Katrin;
Turnbull, Lynne;
Whitchurch, Cynthia B.;
North, Kathryn N.;
Cooper, Sandra T.

Publication type:

Article

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.

Published in:

Nature Genetics, 2007, v. 39, n. 10, p. 1261, doi. 10.1038/ng2122

By:

MacArthur, Daniel G.;
Seto, Jane T.;
Raftery, Joanna M.;
Quinlan, Kate G.;
Huttley, Gavin A.;
Hook, Jeff W.;
Lemckert, Frances A.;
Kee, Anthony J.;
Edwards, Michael R.;
Berman, Yemima;
Hardeman, Edna C.;
Gunning, Peter W.;
Easteal, Simon;
Nan Yang;
North, Kathryn N.

Publication type:

Article

Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis.

Published in:

Nature Genetics, 2000, v. 24, n. 3, p. 251, doi. 10.1038/73456

By:

Kaplan, Joshua M.;
H Kim, Sung;
North, Kathryn N.;
Rennke, Helmut;
A Correia, Lori;
Tong, Hui-Qi;
Mathis, Beverly J.;
Rodríguez-Pérez, José-Carlos;
Allen, Philip G.;
Beggs, Alan H.;
Pollak, Martin R.

Publication type:

Article

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.

Published in:

Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837

By:

Nowak, Kristen J.;
Wattanasirichaigoon, Duangrurdee;
Goebel, Hans H.;
Wilce, Matthew;
Pelin, Katarina;
Donner, Kati;
Jacob, Rebecca L.;
Hübner, Christoph;
Oexle, Konrad;
Anderson, Janice R.;
Verity, Christopher M.;
North, Kathryn N.;
Iannaccone, Susan T.;
Müller, Clemens R.;
Nürnberg, Peter;
Muntoni, Francesco;
Sewry, Caroline;
Hughes, Imelda;
Sutphen, Rebecca

Publication type:

Article

A common nonsense mutation results in α-actinin-3 deficiency in the general population.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 353, doi. 10.1038/7675

By:

North, Kathryn N.;
Yang, Nan;
Wattanasirichaigoon, Duangrurdee;
Mills, Michelle;
Easteal, Simon;
Beggs, Alan H.

Publication type:

Article

Age-related findings on MRI in neurofibromatosis type 1.

Published in:

2006

By:

Gill, Deepak S.;
Hyman, Shelley L.;
Steinberg, Adam;
North, Kathryn N.

Publication type:

journal article

A gene for speed? The evolution and function of α-acting-3.

Published in:

BioEssays, 2004, v. 26, n. 7, p. 786, doi. 10.1002/bies.20061

By:

MacArthur, Daniel G.;
North, Kathryn N.

Publication type:

Article

Impaired engagement of the ventral attention system in neurofibromatosis type 1.

Published in:

2018

By:

Pride, Natalie A.;
Korgaonkar, Mayuresh S.;
North, Kathryn N.;
Payne, Jonathan M.

Publication type:

journal article

Expanding the phenotype of GMPPB mutations.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 4, p. 836, doi. 10.1093/brain/awv013

By:

Cabrera-Serrano, Macarena;
Ghaoui, Roula;
Ravenscroft, Gianina;
Johnsen, Russell D.;
Davis, Mark R.;
Corbett, Alastair;
Reddel, Stephen;
Sue, Carolyn M.;
Christina Liang;
Waddell, Leigh B.;
Kaur, Simranpreet;
Lek, Monkol;
North, Kathryn N.;
MacArthur, Daniel G.;
Lamont, Phillipa J.;
Clarke, Nigel F.;
Laing, Nigel G.

Publication type:

Article

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1714, doi. 10.1093/brain/aws108

By:

Oates, Emily C.;
Reddel, Stephen;
Rodriguez, Michael L.;
Gandolfo, Luke C.;
Bahlo, Melanie;
Hawke, Simon H.;
Lamandé, Shireen R.;
Clarke, Nigel F.;
North, Kathryn N.

Publication type:

Article

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3513, doi. 10.1093/brain/awr274

By:

Nguyen, Mai-Anh T.;
Joya, Josephine E.;
Kee, Anthony J.;
Domazetovska, Ana;
Yang, Nan;
Hook, Jeff W.;
Lemckert, Frances A.;
Kettle, Emma;
Valova, Valentina A.;
Robinson, Philip J.;
North, Kathryn N.;
Gunning, Peter W.;
Mitchell, Christina A.;
Hardeman, Edna C.

Publication type:

Article

Mechanisms underlying intranuclear rod formation.

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3275, doi. 10.1093/brain/awm247

By:

Ana Domazetovska;
Biljana Ilkovski;
Sandra T. Cooper;
Majid Ghoddusi;
Edna C. Hardeman;
Laurie S. Minamide;
Peter W. Gunning;
James R. Bamburg;
Kathryn N. North

Publication type:

Article

Activating internal ribosome entry to treat Duchenne muscular dystrophy.

Published in:

Nature Medicine, 2014, v. 20, n. 9, p. 987, doi. 10.1038/nm.3677

By:

Lamandé, Shireen R;
North, Kathryn N

Publication type:

Article

Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a.

Published in:

BMC Musculoskeletal Disorders, 2009, v. 10, p. 1, doi. 10.1186/1471-2474-10-51

By:

Renjing Liu;
Ginn, Samantha L.;
Lek, Monkol;
North, Kathryn N.;
Alexander, Ian E.;
Little, David G.;
Schindeler, Aaron

Publication type:

Article

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1774, doi. 10.1002/humu.23663

By:

Houweling, Peter J.;
Papadimitriou, Ioannis D.;
Seto, Jane T.;
Pérez, Laura M.;
Coso, Juan Del;
North, Kathryn N.;
Lucia, Alejandro;
Eynon, Nir

Publication type:

Article

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.

Published in:

Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385

By:

Sandaradura, Sarah A.;
Bournazos, Adam;
Mallawaarachchi, Amali;
Cummings, Beryl B.;
Waddell, Leigh B.;
Jones, Kristi J.;
Troedson, Christopher;
Sudarsanam, Annapurna;
Nash, Benjamin M.;
Peters, Gregory B.;
Algar, Elizabeth M.;
MacArthur, Daniel G.;
North, Kathryn N.;
Brammah, Susan;
Charlton, Amanda;
Laing, Nigel G.;
Wilson, Meredith J.;
Davis, Mark R.;
Cooper, Sandra T.

Publication type:

Article