M.L. Kennerson: search on Z-Library

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1

Genome-wide Linkage Analysis Identifies α-Actinin-2 as a Causative Gene in Familial Hypertrophic Cardiomyopathy

Christine Chiu, Joanne M. Lind, Richard D. Bagnall, Jodie Ingles, Laura Yeates, Marina Kennerson, Mika Jormakka, Jennifer A. Donald, Christopher Semsarian

Journal:

Heart Lung & Circulation

Year:

2009

Language:

english

File:

PDF, 61 KB

english, 2009

2

Morphology and histochemistry of the mandibular gland of the australian brush-tail possum Trichosurus vulpecula (Marsupialia)

Louise A. Blood, Alan R. Kennerson, Ernest W. Van Lennep

Journal:

The Anatomical Record Advances in Integrative Anatomy and Evolutionary Biology

Year:

1977

Language:

english

File:

PDF, 1.57 MB

english, 1977

3

Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy

Shahrizaila, N., Noto, Y., Simon, N.G., Huynh, W., Shibuya, K., Matamala, J.M., Dharmadasa, T., Devenney, E., Kennerson, M.L., Nicholson, G.A., Kiernan, M.C.

Journal:

Clinical Neurophysiology

Year:

2017

Language:

english

File:

PDF, 467 KB

english, 2017

4

The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family

Albulym, Obaid M., Zhu, Danqing, Reddel, Stephen, Kennerson, Marina, Nicholson, Garth

Journal:

Journal of Neurodegenerative Diseases

Year:

2013

Language:

english

File:

PDF, 1.71 MB

english, 2013

5

A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A

Nortina Shahrizaila, Khean Jin Goh, Azlina Ahmad-Annuar, Rabia Chaudhry, Carolyn Ly, Monique M. Ryan, Garth Nicholson, Marina Kennerson

Journal:

Year:

2012

Language:

english

File:

PDF, 113 KB

english, 2012

6

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations

Zhu, D., Kennerson, M. L., Walizada, G., Zuchner, S., Vance, J. M., Nicholson, G. A.

Journal:

Year:

2005

Language:

english

File:

PDF, 1.52 MB

english, 2005

7

Glomus coccygeum may mimic glomus tumour

Santos, Leonardo D., Chow, Christopher, Kennerson, Alan R.

Journal:

Year:

2002

Language:

english

File:

PDF, 1.21 MB

english, 2002

8

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy: A Genome-Wide Analysis

Christine Chiu, Richard D. Bagnall, Jodie Ingles, Laura Yeates, Marina Kennerson, Jennifer A. Donald, Mika Jormakka, Joanne M. Lind, Christopher Semsarian

Journal:

Journal of the American College of Cardiology

Year:

2010

Language:

english

File:

PDF, 1.27 MB

english, 2010

9

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

Drew, Alexander P., Zhu, Danqing, Kidambi, Aditi, Ly, Carolyn, Tey, Shelisa, Brewer, Megan H., Ahmad-Annuar, Azlina, Nicholson, Garth A., Kennerson, Marina L.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2015

Language:

english

File:

PDF, 195 KB

english, 2015

10

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation

Chaudhry, Rabia, Kidambi, Aditi, Brewer, Megan Hwa, Antonellis, Anthony, Mathews, Katherine, Nicholson, Garth, Kennerson, Marina

Journal:

Year:

2013

Language:

english

File:

PDF, 176 KB

english, 2013

11

Placental site nodules and plaques: a clinicopathological and immunohistochemical study of 25 cases with ultrastructural findings

Santos, Leonardo D., Fernando, Sujatha S.E., Yong, James L.C., Killingsworth, Murray C., Juan Wu, Xiao, Kennerson, Alan R.

Journal:

Year:

1999

Language:

english

File:

PDF, 10.52 MB

english, 1999

12

Modafinil Effects during Acute Continuous Positive Airway Pressure Withdrawal

Williams, Shaun C., Marshall, Nathaniel S., Kennerson, Marina, Rogers, Naomi L., Liu, Peter Y., Grunstein, Ronald R.

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2010

Language:

english

File:

PDF, 438 KB

english, 2010

13

Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region

Danqing Zhu, Marina Kennerson, John Merory, Roman Chrast, Mark Verheijen, Greg Lemke, Garth Nicholson

Journal:

Year:

2003

Language:

english

File:

PDF, 177 KB

english, 2003

14

X-linked CMT: genes and gene loci in an Australian cohort

Megan Hwa Brewer, Rabia Chaudhry, Keta McDowall, Shannon Chu, Bartosz Kowalski, Patsie Polly, Garth Nicholson, Marina Kennerson

Journal:

Year:

2010

Language:

english

File:

PDF, 83 KB

english, 2010

15

Dominant Intermediate Charcot-Marie-Tooth Neuropathy Maps to Chromosome 19p12-p13.2

M.L. Kennerson, D. Zhu, R.J.M. Gardner, E. Storey, J. Merory, S.P. Robertson, G.A. Nicholson

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 913 KB

english, 2001

16

Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies

Peeters, Kristien, Bervoets, Sven, Chamova, Teodora, Litvinenko, Ivan, De Vriendt, Els, Bichev, Stoyan, Kancheva, Dahlia, Mitev, Vanyo, Kennerson, Marina, Timmerman, Vincent, De Jonghe, Peter, Tournev

Journal:

Year:

2015

Language:

english

File:

PDF, 555 KB

english, 2015

17

The ultrastructure of the sheep parotid gland

Ernest W. Lennep, Alan R. Kennerson, Jeffrey S. Compton

Journal:

Cell and Tissue Research

Year:

1977

Language:

english

File:

PDF, 4.46 MB

english, 1977

18

The Charcot–Marie–Tooth Binary Repeat Contains a Gene Transcribed from the Opposite Strand of a Partially Duplicated Region of theCOX10Gene

Marina L. Kennerson, Najah T. Nassif, Jennifer L. Dawkins, Robert M. Dekroon, Jian G. Yang, Garth A. Nicholson

Journal:

Year:

1997

Language:

english

File:

PDF, 320 KB

english, 1997

19

Multiple protective activities of neuroglobin in cultured neuronal cells exposed to hypoxia re-oxygenation injury

Thi Thuy Hong Duong, Paul Kenneth Witting, Shane Tony Antao, Sarah Nicole Parry, Marina Kennerson, Barry Lai, Stefan Vogt, Peter Andrew Lay, Hugh Hamlyn Harris

Journal:

Journal of Neurochemistry

Year:

2009

Language:

english

File:

PDF, 601 KB

english, 2009

20

X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene

Kennerson, Marina L., Kim, Eun J., Siddell, Anna, Kidambi, Aditi, Kim, Sung M., Hong, Young B., Hwang, Sun H., Chung, Ki W., Choi, Byung-Ok

Journal:

Journal of the Peripheral Nervous System

Year:

2016

Language:

english

File:

PDF, 484 KB

english, 2016

21

Triplet pregnancy with a co-existing hydatidi-form mole, two liveborn infants and a single placenta

Santos, Leonardo D., Millard, Russell, Kennerson, Alan R.

Journal:

Year:

2003

Language:

english

File:

PDF, 2.28 MB

english, 2003

22

G.O. 9 Dynamin 2 mutations are associated with dominant intermediate Charcot-Marie-Tooth disease and dominant centronuclear myopathy

K.G. Claeys, S. Züchner, M. Kennerson, K. Verhoeven, C. Ceuterick, J.J. Martin, J. Berciano, J.M. Vance, G. Nicholson, V. Timmerman, P. De Jonghe

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

23

Phenotypic Expression of Benign Familial Neonatal Convulsions Linked to Chromosome 20

Berkovic, S. F., Kennerson, M. L., Howell, R. A., Scheffer, I. E., Hwang, P. A., Nicholson, G. A.

Journal:

Archives of Neurology

Year:

1994

Language:

english

File:

PDF, 1.71 MB

english, 1994

24

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

Kochanski, A., Kennerson, M., Kawulak, M., Ryniewicz, B., Rowinska-Marcinska, K., Walizada, G., Nowakowski, A., Hausmanowa-Petrusewicz, I., Nicholson, G. A.

Journal:

Year:

2005

Language:

english

File:

PDF, 436 KB

english, 2005

25

SIRT1 Polymorphisms and Serum-Induced SIRT1 Protein Expression in Aging and Frailty: The CHAMP Study

Razi, Shajjia, Cogger, Victoria C., Kennerson, Marina, Benson, Vicky L., McMahon, Aisling C., Blyth, Fiona M., Handelsman, David J., Seibel, Markus J., Hirani, Vasant, Naganathan, Vasikaran, Waite, Lo

Journal:

The Journals of Gerontology Series A Biological Sciences and Medical Sciences

Year:

2017

Language:

english

File:

PDF, 238 KB

english, 2017

26

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

Perez-Siles, Gonzalo, Cutrupi, Anthony, Ellis, Melina, Kuriakose, Jakob, La Fontaine, Sharon, Mao, Di, Uesugi, Motonari, Takata, Reinaldo I., Speck-Martins, Carlos E., Nicholson, Garth, Kennerson, Mar

Journal:

Disease Models & Mechanisms

Year:

2020

File:

PDF, 18.93 MB

2020

27

D.O.5 A combination of linkage analysis and exome sequencing identifies a new gene for X-linked Charcot–Marie–Tooth neuropathy

Kennerson, M., Yiu, E., Chuang, D., Tso, S., Ly, C., Kidambi, A., Ryan, M., Nicholson, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

28

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

Perez-Siles, G., Cutrupi, A., Ellis, M., Screnci, R., Mao, D., Uesugi, M., Yiu, Eppie M., Ryan, Monique M., Choi, B. O., Nicholson, G., Kennerson, M. L.

Journal:

Scientific Reports

Year:

2020

File:

PDF, 11.34 MB

2020

29

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

Rinaldi, Carlo, Grunseich, Christopher, Sevrioukova, Irina F., Schindler, Alice, Horkayne-Szakaly, Iren, Lamperti, Costanza, Landouré, Guida, Kennerson, Marina L., Burnett, Barrington G., Bönnemann, C

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.02 MB

english, 2012

30

Dehydroepiandrosterone Sulfotransferase Localization in Human Adrenal Glands: A Light and Electron Microscopic Study*

Kennerson, A. R., McDonald, D. A., Adams, J. B.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1983

Language:

english

File:

PDF, 11.26 MB

english, 1983

31

Single test for two hereditary neuropathies, CMT1A and HNPP

Kennerson, M L, Gordon, M J, Blair, I P, Nicholson, G A

Journal:

Clinical Chemistry

Year:

1995

File:

PDF, 542 KB

1995

32

Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction

Blair, I P, Kennerson, M L, Nicholson, G A

Journal:

Clinical Chemistry

Year:

1995

File:

PDF, 961 KB

1995

33

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh, Ian P. Blair, Imke Puls, Joy Irobi, Ines Dierick, Annette Abel, Marina L. Kennerson, Bruce A. Rabin, Garth A. Nicholson, Michaela Auer-Grumbach, Klaus

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.87 MB

english, 2004

34

CMT with pyramidal features

Vucic, S., Kennerson, M., Zhu, D., Miedema, E., Kok, C., Nicholson, G. A.

Journal:

Year:

2003

Language:

english

File:

PDF, 222 KB

english, 2003

35

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies

Tey, Shelisa, Ahmad-Annuar, Azlina, Drew, Alexander P., Shahrizaila, Nortina, Nicholson, Garth A., Kennerson, Marina L.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 138 KB

english, 2015

36

Triplet pregnancy with a co-existing hydatidiform mole, two liveborn infants and a single placenta

Santos, Leonardo D., Millard, Russell, Kennerson, Alan R.

Journal:

Year:

2003

File:

PDF, 2.11 MB

2003

37

Morphology, histochemistry and physiology of the major salivary glands in the echidna Tachyglossus aculeatus (Monotremata)

E. W. van Lennep, A. R. Kennerson, J. A. Young, J. R. S. Hales

Journal:

Journal of Morphology

Year:

1979

Language:

english

File:

PDF, 1.38 MB

english, 1979

38

311: New genes and new mechanisms in peripheral nerve and spinal cord disorders

Garth A. Nicholson, Simon Meyers, Marina Kennerson

Journal:

Journal of Clinical Neuroscience

Year:

2007

Language:

english

File:

PDF, 35 KB

english, 2007

39

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation

Perez-Siles, Gonzalo, Ly, Carolyn, Grant, Adrienne, Drew, Alexander P., Yiu, Eppie M., Ryan, Monique M., Chuang, David T., Tso, Shih-Chia, Nicholson, Garth A., Kennerson, Marina L.

Journal:

Neurobiology of Disease

Year:

2016

Language:

english

File:

PDF, 1.71 MB

english, 2016

40

Does the TNFRSFIIA insertion mutation occur in familial Paget's disease of bone in Australia?

N Kormas, M. Kennerson, A. Hooper, M. Vale, G. Nicholson, M. Hooper

Journal:

Year:

2000

Language:

english

File:

PDF, 103 KB

english, 2000

41

A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34–q36.2

Drew, Alexander P., Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.38 MB

english, 2016

42

A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24

C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing, J.D. Pollard, G.A. Nicholson

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 413 KB

english, 2003

43

A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's disease GBA gene

Lubomski, Michal, Hayes, Michael, Kennerson, Marina, Ellis, Melina, Chu, Shannon, Blackie, Jeffrey, O'Sullivan, John D, Nicholson, Garth

Journal:

Movement Disorders

Year:

2018

Language:

english

File:

PDF, 195 KB

english, 2018

44

Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes

Cindy Kok, Marina L. Kennerson, Simon J. Myers, Garth A. Nicholson

Journal:

Year:

2004

Language:

english

File:

PDF, 157 KB

english, 2004

45

Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region

Megan Brewer, Febriani Changi, Anthony Antonellis, Kurt Fischbeck, Patsie Polly, Garth Nicholson, Marina Kennerson

Journal:

Year:

2008

Language:

english

File:

PDF, 208 KB

english, 2008

46

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase ( AARS ) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

McLaughlin, Heather M., Sakaguchi, Reiko, Giblin, William, Wilson, Thomas E., Biesecker, Leslie, Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Lee, Yi-Chung, Kennerson, Marina,

Journal:

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

47

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 1.58 MB

english, 2018

48

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

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 Arbuckl

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 3.95 MB

english, 2010

49

Appendiceal mixed endocrine-exocrine neoplasm presenting as bilateral solid tubular and classical Krukenberg tumour

Santos, Leonardo D., Kennerson, Alan, Killingsworth, Murray

Journal:

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

50

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

Marina L. Kennerson, Garth A. Nicholson, Stephen G. Kaler, Bartosz Kowalski, Julian F.B. Mercer, Jingrong Tang, Roxana M. Llanos, Shannon Chu, Reinaldo I. Takata, Carlos E. Speck-Martins, Jonathan Bae

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.37 MB

english, 2010

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