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1

Genes and human elite athletic performance

Daniel G. MacArthur, Kathryn N. North

Journal:

Year:

2005

Language:

english

File:

PDF, 301 KB

english, 2005

2

ACTN3 and ACE Genotypes in Elite Jamaican and US Sprinters

SCOTT, ROBERT A., IRVING, RACHAEL, IRWIN, LAURA, MORRISON, ERROL, CHARLTON, VILMA, AUSTIN, KRISTA, TLADI, DAWN, DEASON, MICHAEL, HEADLEY, SAMUEL A., KOLKHORST, FRED W., YANG, NAN, NORTH, KATHRYN, PITS

Journal:

Medicine & Science in Sports & Exercise

Year:

2010

Language:

english

File:

PDF, 118 KB

english, 2010

3

The ACTN3 R577X Polymorphism in East and West African Athletes

YANG, NAN, MACARTHUR, DANIEL G., WOLDE, BEZABHE, ONYWERA, VINCENT O., BOIT, MICHAEL K., LAU, SAU YIN MARY-ANN, WILSON, RICHARD H., SCOTT, ROBERT A., PITSILADIS, YANNIS P., NORTH, KATHRYN

Journal:

Medicine & Science in Sports & Exercise

Year:

2007

Language:

english

File:

PDF, 86 KB

english, 2007

4

Neurotomes and birth defects: A neuroanatomic method of interpretation of multiple congenital malformations

Kathryn North, Janet McCredie, John M. Opitz, Jay Bernstein

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 813 KB

english, 1987

5

Reliability of quantifying foot and ankle muscle strength in very young children

Kristy J. Rose, Joshua Burns, Monique M. Ryan, Robert A. Ouvrier, Kathryn N. North

Journal:

Year:

2008

Language:

english

File:

PDF, 84 KB

english, 2008

6

Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice

Stephen Chan, Jane T. Seto, Peter J. Houweling, Nan Yang, Kathryn N. North, Stewart I. Head

Journal:

Year:

2011

Language:

english

File:

PDF, 552 KB

english, 2011

7

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency

Eppie M. Yiu, Alfred Klausegger, Leigh B. Waddell, Nikolaus Grasern, Lyn Lloyd, Kim Tran, Kathryn N. North, Johann W. Bauer, Penelope McKelvie, C.W. Chow, Monique M. Ryan, Dedee F. Murrell

Journal:

Year:

2011

Language:

english

File:

PDF, 651 KB

english, 2011

8

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes

Leigh B. Waddell, Nicole Monnier, Sandra T. Cooper, Kathryn N. North, Nigel F. Clarke

Journal:

Year:

2011

Language:

english

File:

PDF, 149 KB

english, 2011

9

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients

Carol G. Au, Tanya L. Butler, Jonathan R. Egan, Sandra T. Cooper, Harriet P. Lo, Alison G. Compton, Kathryn N. North, David S. Winlaw

Journal:

Acta Neuropathologica

Year:

2008

Language:

english

File:

PDF, 856 KB

english, 2008

10

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

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

Journal:

Year:

2012

Language:

english

File:

PDF, 27.05 MB

english, 2012

11

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

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

Journal:

BMC Musculoskeletal Disorders

Year:

2009

Language:

english

File:

PDF, 3.06 MB

english, 2009

12

Muscular dystrophy associated with α-dystroglycan deficiency in Sphynx and Devon Rex cats

Paul T. Martin, G. Diane Shelton, Peter J. Dickinson, Beverly K. Sturges, Rui Xu, Richard A. LeCouteur, Ling T. Guo, Robert A. Grahn, Harriet P. Lo, Kathryn N. North, Richard Malik, Eva Engvall, Lesli

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 1.75 MB

english, 2008

13

ACTN3 Genotype Is Associated with Human Elite Athletic Performance

Nan Yang, Daniel G. MacArthur, Jason P. Gulbin, Allan G. Hahn, Alan H. Beggs, Simon Easteal, Kathryn North

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 192 KB

english, 2003

14

The Impact of ADHD on the Cognitive and Academic Functioning of Children With NF1

Pride, Natalie A., Payne, Jonathan M., North, Kathryn N.

Journal:

Developmental Neuropsychology

Year:

2012

Language:

english

File:

PDF, 155 KB

english, 2012

15

Genes for Elite Power and Sprint Performance:ACTN3Leads the Way

Eynon, Nir, Hanson, Erik D., Lucia, Alejandro, Houweling, Peter J., Garton, Fleur, North, Kathryn N., Bishop, David J.

Journal:

Sports Medicine

Year:

2013

Language:

english

File:

PDF, 595 KB

english, 2013

16

Molt-dependent transcriptomic analysis of cement proteins in the barnacle Amphibalanus amphitrite

Wang, Zheng, Leary, Dagmar H., Liu, Jinny, Settlage, Robert E., Fears, Kenan P., North, Stella H., Mostaghim, Anahita, Essock-Burns, Tara, Haynes, Sarah E., Wahl, Kathryn J., Spillmann, Christopher M.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.92 MB

english, 2015

17

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance

GARTON, FLEUR C., NORTH, KATHRYN N.

Journal:

Medicine & Science in Sports & Exercise

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

18

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases

Punetha, Jaya, Kesari, Akanchha, Uapinyoying, Prech, Giri, Mamta, Clarke, Nigel F., Waddell, Leigh B., North, Kathryn N., Ghaoui, Roula, O’Grady, Gina L., Oates, Emily C., Sandaradura, Sarah A., Bönne

Journal:

Journal of Neuromuscular Diseases

Year:

2016

Language:

english

File:

PDF, 808 KB

english, 2016

19

Genetics and sport performance: current challenges and directions to the future

GUILHERME, João Paulo Limongi França, TRITTO, Aline Cristina Capparelli, NORTH, Kathryn Nance, LANCHA JUNIOR, Antonio Herbert, ARTIOLI, Guilherme Giannini

Journal:

Revista Brasileira de Educação Física e Esporte

Year:

2014

Language:

english

File:

PDF, 680 KB

english, 2014

20

Attention to faces in social context in children with neurofibromatosis type 1

Lewis, Amelia K, Porter, Melanie A, Williams, Tracey A, Bzishvili, Samantha, North, Kathryn N, Payne, Jonathan M

Journal:

Developmental Medicine & Child Neurology

Year:

2018

Language:

english

File:

PDF, 203 KB

english, 2018

21

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

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

Journal:

Year:

2018

Language:

english

File:

PDF, 1.27 MB

english, 2018

22

A bifunctional salvage pathway for two distinct S‐adenosylmethionine byproducts that is widespread in bacteria, including pathogenic Escherichia coli

North, Justin A., Wildenthal, John A., Erb, Tobias J., Evans, Bradley S., Byerly, Kathryn M., Gerlt, John A., Tabita, F. Robert

Journal:

Molecular Microbiology

Year:

2020

Language:

english

File:

PDF, 14.48 MB

english, 2020

23

Neurofibromatosis Type 1

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 171 KB

english, 2000

24

CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)

Kathryn N. North, Bai Lin Wu, Benning N. Cao, David A. H. Whiteman, Dr. Bruce R. Korf

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 481 KB

english, 1995

25

Identical twins with Cohen syndrome

Kathryn N. North, Anne B. Fulton, David A. H. Whiteman

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 543 KB

english, 1995

26

17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one

Alexander Asamoah, Kathryn North, Steve Doran, Joseph Wagstaff, Robert Ogle, Francis S. Collins, Bruce R. Korf

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1.11 MB

english, 1995

27

Nemaline myopathy: A clinical study of 143 cases

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

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 143 KB

english, 2001

28

An αtropomyosin mutation alters dimer preference in nemaline myopathy

Mark A. Corbett, P. Anthony Akkari, Ana Domazetovska, Sandra T. Cooper, Kathryn N. North, Nigel G. Laing, Peter W. Gunning, Edna C. Hardeman

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 224 KB

english, 2005

29

A novel X-linked form of congenital fiber-type disproportion

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

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 224 KB

english, 2005

30

SEPN1: Associated with congenital fiber-type disproportion and insulin resistance

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

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 196 KB

english, 2006

31

The pathogenesis of ACTA1-related congenital fiber type disproportion

Nigel F. Clarke, Biljana Ilkovski, Sandra Cooper, Valentina A. Valova, Phillip J. Robinson, Ikuya Nonaka, Juan-Juan Feng, Steven Marston, Kathryn North

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 957 KB

english, 2007

32

Cerebrovascular complications in Ehlers-Danlos syndrome type IV

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

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 536 KB

english, 1995

33

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

Daniel G. MacArthur, Kathryn N. North

Journal:

Year:

2004

Language:

english

File:

PDF, 296 KB

english, 2004

34

The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric α-actinins

Monkol Lek, Kate G. R. Quinlan, Kathryn N. North

Journal:

Year:

2010

Language:

english

File:

PDF, 342 KB

english, 2010

35

Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle

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

Journal:

Year:

2008

Language:

english

File:

PDF, 839 KB

english, 2008

36

Natural variation in Arabidopsis adaptation to growth at low nitrogen conditions

Kathryn Anne North, Barbara Ehlting, Anna Koprivova, Heinz Rennenberg, Stanislav Kopriva

Journal:

Plant Physiology and Biochemistry

Year:

2009

Language:

english

File:

PDF, 296 KB

english, 2009

37

Calcium signalling in stomatal responses to pollutants

Martin R. McAinsh, Nicky H. Evans, Lucy T. Montgomery, Kathryn A. North

Journal:

New Phytologist

Year:

2002

Language:

english

File:

PDF, 334 KB

english, 2002

38

Age-related findings on MRI in neurofibromatosis type 1

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

Journal:

Pediatric Radiology

Year:

2006

Language:

english

File:

PDF, 855 KB

english, 2006

39

Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1

Mahendranath Moharir, Kevin London, Robert Howman-Giles, Kathryn North

Journal:

European Journal of Nuclear Medicine and Molecular Imaging

Year:

2010

Language:

english

File:

PDF, 413 KB

english, 2010

40

Structural characterisation of neutrophil glycans by ultra sensitive mass spectrometric glycomics methodology

Ponnusamy Babu, Simon J. North, Jihye Jang-Lee, Sara Chalabi, Kathryn Mackerness, Sean R. Stowell, Richard D. Cummings, Sara Rankin, Anne Dell, Stuart M. Haslam

Journal:

Glycoconjugate Journal

Year:

2009

Language:

english

File:

PDF, 770 KB

english, 2009

41

Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2

Simone L. Ardern-Holmes, Kathryn N. North

Journal:

Current Treatment Options in Neurology

Year:

2011

Language:

english

File:

PDF, 180 KB

english, 2011

42

Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy

Carol G. Au, Tanya L. Butler, Megan C. Sherwood, Jonathan R. Egan, Kathryn N. North, David S. Winlaw

Journal:

International Journal of Experimental Pathology

Year:

2011

Language:

english

File:

PDF, 533 KB

english, 2011

43

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

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

Journal:

Journal of Paediatrics and Child Health

Year:

2011

Language:

english

File:

PDF, 297 KB

english, 2011

44

Social skills of children with neurofibromatosis type 1

Belinda Barton BA, Kathryn North

Journal:

Developmental Medicine & Child Neurology

Year:

2004

Language:

english

File:

PDF, 139 KB

english, 2004

45

Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit- hyperactivity disorder

Shelley L Hyman, E Arthur, Kathryn N North

Journal:

Developmental Medicine & Child Neurology

Year:

2006

Language:

english

File:

PDF, 78 KB

english, 2006

46

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

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.

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 1024 KB

english, 2000

47

10.1038/7675

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

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 480 KB

english, 1999

48

Natural variation for sulfate content in Arabidopsis thaliana is highly controlled by APR2

Loudet, Olivier, Saliba-Colombani, Vera, Camilleri, Christine, Calenge, Fanny, Gaudon, Virginie, Koprivova, Anna, North, Kathryn A, Kopriva, Stanislav, Daniel-Vedele, Françoise

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 233 KB

english, 2007

49

Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks

Moran, Colin N, Yang, Nan, Bailey, Mark E S, Tsiokanos, Athanasios, Jamurtas, Athanasios, MacArthur, Daniel G, North, Kathryn, Pitsiladis, Yannis P, Wilson, Richard H

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 126 KB

english, 2006

50

The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research

Maria T. Acosta, Carrie E. Bearden, Xavier F. Castellanos, Laurie Cutting, Ype Elgersma, Gerard Gioia, David H. Gutmann, Yong-Seok Lee, Eric Legius, Maximillian Muenke, Kathryn North, Luis F. Parada,

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 119 KB

english, 2012

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