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Marina Kennerson
Marina Kennerson
ANZAC Research Institute University of Sydney
No verified email - Homepage
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Cited by
Cited by
Year
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
YZ Chen, CL Bennett, HM Huynh, IP Blair, I Puls, J Irobi, I Dierick, A Abel, ...
The American Journal of Human Genetics 74 (6), 1128-1135, 2004
10012004
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
S Züchner, M Noureddine, M Kennerson, K Verhoeven, K Claeys, ...
Nature genetics 37 (3), 289-294, 2005
4172005
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
GA Nicholson, LJ Valentijn, AK Cherryson, ML Kennerson, TL Bragg, ...
Nature genetics 6 (3), 263-266, 1994
2821994
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis
C Chiu, RD Bagnall, J Ingles, L Yeates, M Kennerson, JA Donald, ...
Journal of the American College of Cardiology 55 (11), 1127-1135, 2010
2062010
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
ML Kennerson, GA Nicholson, SG Kaler, B Kowalski, JFB Mercer, J Tang, ...
The American Journal of Human Genetics 86 (3), 343-352, 2010
2022010
The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22. 1–q22. 3
GA Nicholson, JL Dawkins, IP Blair, ML Kennerson, MJ Gordon, ...
Nature genetics 13 (1), 101-104, 1996
1641996
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
C Rinaldi, C Grunseich, IF Sevrioukova, A Schindler, I Horkayne-Szakaly, ...
The American Journal of Human Genetics 91 (6), 1095-1102, 2012
1482012
A Recurrent loss‐of‐function alanyl‐tRNA synthetase (AARS ) mutation in patients with charcot‐marie‐tooth disease type 2N (CMT2N)
HM McLaughlin, R Sakaguchi, W Giblin, ...
Human mutation 33 (1), 244-253, 2012
1242012
Charcot–Marie–Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations
D Zhu, ML Kennerson, G Walizada, S Zuchner, JM Vance, GA Nicholson
Neurology 65 (3), 496-497, 2005
1182005
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
RD Susman, S Quijano-Roy, N Yang, R Webster, NF Clarke, J Dowling, ...
Neuromuscular Disorders 20 (4), 229-237, 2010
1152010
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
KG Claeys, S Züchner, M Kennerson, J Berciano, A Garcia, K Verhoeven, ...
Brain 132 (7), 1741-1752, 2009
1032009
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
M Coutelier, C Goizet, A Durr, F Habarou, S Morais, A Dionne-Laporte, ...
Brain 138 (8), 2191-2205, 2015
1022015
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
M Minnerop, D Kurzwelly, H Wagner, AS Soehn, J Reichbauer, F Tao, ...
Brain 140 (6), 1561-1578, 2017
992017
A new autosomal dominant pure cerebellar ataxia
E Storey, RJM Gardner, MA Knight, ML Kennerson, RR Tuck, SM Forrest, ...
Neurology 57 (10), 1913-1915, 2001
942001
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
P De Jonghe, M Auer‐Grumbach, J Irobi, K Wagner, B Plecko, ...
Brain 125 (6), 1320-1325, 2002
922002
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
PC Tsai, BW Soong, I Mademan, YH Huang, CR Liu, CT Hsiao, HT Wu, ...
Brain 140 (5), 1252-1266, 2017
882017
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
I Stevanovski, SR Chintalaphani, H Gamaarachchi, JM Ferguson, ...
Science advances 8 (9), eabm5386, 2022
872022
A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
ML Kennerson, EM Yiu, DT Chuang, A Kidambi, SC Tso, C Ly, ...
Human molecular genetics 22 (7), 1404-1416, 2013
872013
Multiple protective activities of neuroglobin in cultured neuronal cells exposed to hypoxia re‐oxygenation injury
TTH Duong, PK Witting, ST Antao, SN Parry, M Kennerson, B Lai, S Vogt, ...
Journal of neurochemistry 108 (5), 1143-1154, 2009
852009
A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24
C Kok, ML Kennerson, PJ Spring, AJ Ing, JD Pollard, GA Nicholson
The American Journal of Human Genetics 73 (3), 632-637, 2003
822003
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