Marina L Kennerson

Affiliations

Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia.
Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
The Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, Australia.

ORCID: http://orcid.org/0000-0003-3332-5074

Publications (23)

An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.

Cerebellum (London, England)

Avec: Laura Ivete Rudaks , Dennis Yeow , Karl Ng , Ira W Deveson , Kishore Raj Kumar

Genome sequencing reanalysis increases the diagnostic yield in dystonia.

Parkinsonism & related disorders

Avec: Avi Fellner , Gurusidheshwar M Wali , Neil Mahant , Bianca R Grosz , Melina Ellis , Ramesh K Narayanan , Karl Ng , Ryan L Davis , Michel C Tchan , Katya Kotschet , Dennis Yeow , Laura I Rudaks , Sue-Faye Siow , Gautam Wali , Con Yiannikas , Matthew Hobbs , Joseph Copty , Michael Geaghan , Paul Darveniza , Christina Liang , Laura J Williams , Florence C F Chang , Hugo Morales-Briceño , Stephen Tisch , Michael Hayes , Scott Whyte , Sarah Kummerfeld , Mark J Cowley , Victor S C Fung , Carolyn M Sue , Kishore R Kumar

Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.

Experimental & molecular medicine

Avec: Jonas Van Lent , Robert Prior , Gonzalo Pérez Siles , Anthony N Cutrupi , Tim Vangansewinkel , Esther Wolfs , Bipasha Mukherjee-Clavin , Zachary Nevin , Luke Judge , Bruce Conklin , Henna Tyynismaa , Alex J Clark , David L Bennett , Ludo Van Den Bosch , Mario Saporta , Vincent Timmerman

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.

Italian journal of pediatrics

Avec: Nahid Tavana , Tzer Hwu Ting , Kaitao Lai , Karuppiah Thilakavathy

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.

Brain : a journal of neurology

Avec: Anthony N Cutrupi , Ramesh K Narayanan , Gonzalo Perez-Siles , Bianca R Grosz , Kaitao Lai , Alexandra Boyling , Melina Ellis , Ruby C Y Lin , Brent Neumann , Di Mao , Motonari Uesugi , Garth A Nicholson , Steve Vucic , Mario A Saporta ,

Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.

Neurogenetics

Avec: Bianca R Grosz , John Svaren , Gonzalo Perez-Siles , Garth A Nicholson ,

Upper and lower limb tremor in Charcot-Marie-Tooth neuropathy type 1A and the implications for standing balance.

Journal of neurology

Avec: Matthew Silsby , Con Yiannikas , Alessandro F Fois , Matthew C Kiernan , Victor S C Fung , Steve Vucic

Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.

Cerebellum (London, England)

Avec: Masahiro Nishide , Kathleen Le Marquand , Mark R Davis , Gábor M Halmágyi , Avi Fellner , Ramesh K Narayanan , Stephen W Reddel , Lisa Worgan , Peter K Panegyres , Kishore R Kumar

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare

Frontiers in genetics

Avec: Nurul Huda Musa , Karuppiah Thilakavathy , Nur Afiqah Mohamad , Liyana Najwa Inche Mat , Wei Chao Loh , Anna Misyail Abdul Rashid , Janudin Baharin , Azliza Ibrahim , Wan Aliaa Wan Sulaiman , Fan Kee Hoo , Hamidon Basri , Abdul Hanif Khan Yusof Khan

Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.

Journal of neurology, neurosurgery, and psychiatry

Avec: Jevin M Parmar , Nigel G Laing , Gianina Ravenscroft

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.

Molecular genetics & genomic medicine

Avec: Bianca R Grosz , Stephen Tisch , Michel C Tchan , Victor S C Fung , Paul Darveniza , Avi Fellner , Manju A Kurian , Alison McLean , Susan E Tomlinson , Renee Smyth , Sophie Devery , Kathy H C Wu , Kishore R Kumar

Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome.

Frontiers in genetics

Avec: Alexandra Boyling , Gonzalo Perez-Siles ,

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.

Human molecular genetics

Avec: Ramesh K Narayanan , Megan H Brewer , Gonzalo Perez-Siles , Melina Ellis , Carolyn Ly , Andrew Burgess , Brent Neumann , Garth A Nicholson , Steve Vucic ,

Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS).

Neurobiology of aging

Avec: Suzanna Edgar , Melina Ellis , Nur Adilah Abdul-Aziz , Khean-Jin Goh , Nortina Shahrizaila , Azlina Ahmad-Annuar

Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.

Journal of the peripheral nervous system : JPNS

Avec: Bianca R Grosz , Igor Stevanovski , Sara Negri , Melina Ellis , Stephanie Barnes , Stephen Reddel , Steve Vucic , Garth A Nicholson , Andrea Cortese , Kishore R Kumar , Ira W Deveson ,

The GENESIS database and tools: A decade of discovery in Mendelian genomics.

Experimental neurology

Avec: Matt C Danzi , Eric Powell , Adriana P Rebelo , Maike F Dohrn , Danique Beijer , Sarah Fazal , Isaac R L Xu , Jessica Medina , Sitong Chen , Yeisha Arcia de Jesus , Jacquelyn Schatzman , Ray E Hershberger , Mario Saporta , Jonathan Baets , Marni Falk , David N Herrmann , Steven S Scherer , Mary M Reilly , Andrea Cortese , Wilson Marques , Mario R Carnejo-Olivas , Oranee Sanmaneechai , Albena Jordanova , Thiago Y T Silva , Jose Luiz Pedroso , Luca Schierbaum , Darius Ebrahimi-Fakhari , Stojan Peric , Yi-Chung Lee , Matthis Synofzik , Mustafa Tekin , Gianina Ravenscroft , Mike Shy , Nazli Basak , Rebecca Schule , Stephan Zuchner

CD300f epitopes are specific targets for acute myeloid leukemia with monocytic differentiation.

Molecular oncology

Avec: Edward Abadir , Robin E Gasiorowski , Kaitao Lai , Fiona Kupresanin , Adelina Romano , Pablo A Silveira , Tsun-Ho Lo , Phillip D Fromm , Harry J Iland , P Joy Ho , P Mark Hogarth , Kenneth Bradstock , Derek N J Hart , Georgina J Clark

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.

Neurogenetics

Avec: Shelisa Tey , Nortina Shahrizaila , Alexander P Drew , Sarimah Samulong , Khean-Jin Goh , Esra Battaloglu , Derek Atkinson , Yesim Parman , Albena Jordanova , Ki Wha Chung , Byung-Ok Choi , Yi-Chung Li , Michaela Auer-Grumbach , Garth A Nicholson , Azlina Ahmad-Annuar

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).

Scientific reports

Avec: Bianca R Grosz , Natasha B Golovchenko , Melina Ellis , Kishore Kumar , Garth A Nicholson , Anthony Antonellis ,

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

Scientific reports

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

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.

Endokrynologia Polska

Avec: Nahid Tavana , Karuppiah Thilakavathy , Tzer Hwu Ting

A Compound Heterozygous Mutation in

Frontiers in genetics

Avec: G Perez-Siles , M Ellis , A Ashe , B Grosz , S Vucic , M C Kiernan , K A Morris , S W Reddel , M L Kennerson

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.

Journal of the peripheral nervous system : JPNS

Avec: Bianca R Grosz , Jevin M Parmar , Melina Ellis , Samantha Bryen , Cas Simons , Andre L M Reis , Igor Stevanovski , Ira W Deveson , Garth Nicholson , Nigel Laing , Mathew Wallis , Gianina Ravenscroft , Kishore R Kumar , Steve Vucic ,

Réseau de co-auteurs

Bianca R Grosz 7 collaborations

Melina Ellis 7 collaborations

Garth A Nicholson 6 collaborations

Kishore R Kumar 5 collaborations

Steve Vucic 5 collaborations

Ramesh K Narayanan 4 collaborations

Gonzalo Perez-Siles 4 collaborations

Ira W Deveson 3 collaborations

Avi Fellner 3 collaborations

Victor S C Fung 3 collaborations

Kaitao Lai 3 collaborations

Karuppiah Thilakavathy 3 collaborations

Gianina Ravenscroft 3 collaborations

Dennis Yeow 2 collaborations

Karl Ng 2 collaborations

Michel C Tchan 2 collaborations

Con Yiannikas 2 collaborations

Paul Darveniza 2 collaborations

Stephen Tisch 2 collaborations

Anthony N Cutrupi 2 collaborations

Mario Saporta 2 collaborations

Nahid Tavana 2 collaborations

Tzer Hwu Ting 2 collaborations

Alexandra Boyling 2 collaborations

Brent Neumann 2 collaborations

Jevin M Parmar 2 collaborations

Khean-Jin Goh 2 collaborations

Nortina Shahrizaila 2 collaborations

Azlina Ahmad-Annuar 2 collaborations

Igor Stevanovski 2 collaborations

Andrea Cortese 2 collaborations

Albena Jordanova 2 collaborations

G Perez-Siles 2 collaborations

M Ellis 2 collaborations

M L Kennerson 2 collaborations

Laura Ivete Rudaks 1 collaboration

Kishore Raj Kumar 1 collaboration

Gurusidheshwar M Wali 1 collaboration

Neil Mahant 1 collaboration

Ryan L Davis 1 collaboration

Katya Kotschet 1 collaboration

Laura I Rudaks 1 collaboration

Sue-Faye Siow 1 collaboration

Gautam Wali 1 collaboration

Matthew Hobbs 1 collaboration

Joseph Copty 1 collaboration

Michael Geaghan 1 collaboration

Christina Liang 1 collaboration

Laura J Williams 1 collaboration

Florence C F Chang 1 collaboration

Hugo Morales-Briceño 1 collaboration

Michael Hayes 1 collaboration

Scott Whyte 1 collaboration

Sarah Kummerfeld 1 collaboration

Mark J Cowley 1 collaboration

Carolyn M Sue 1 collaboration

Jonas Van Lent 1 collaboration

Robert Prior 1 collaboration

Gonzalo Pérez Siles 1 collaboration

Tim Vangansewinkel 1 collaboration

Esther Wolfs 1 collaboration

Bipasha Mukherjee-Clavin 1 collaboration

Zachary Nevin 1 collaboration

Luke Judge 1 collaboration

Bruce Conklin 1 collaboration

Henna Tyynismaa 1 collaboration

Alex J Clark 1 collaboration

David L Bennett 1 collaboration

Ludo Van Den Bosch 1 collaboration

Vincent Timmerman 1 collaboration

Ruby C Y Lin 1 collaboration

Di Mao 1 collaboration

Motonari Uesugi 1 collaboration

Mario A Saporta 1 collaboration

John Svaren 1 collaboration

Matthew Silsby 1 collaboration

Alessandro F Fois 1 collaboration

Matthew C Kiernan 1 collaboration

Masahiro Nishide 1 collaboration

Kathleen Le Marquand 1 collaboration

Mark R Davis 1 collaboration

Gábor M Halmágyi 1 collaboration

Stephen W Reddel 1 collaboration

Lisa Worgan 1 collaboration

Peter K Panegyres 1 collaboration

Nurul Huda Musa 1 collaboration

Nur Afiqah Mohamad 1 collaboration

Liyana Najwa Inche Mat 1 collaboration

Wei Chao Loh 1 collaboration

Anna Misyail Abdul Rashid 1 collaboration

Janudin Baharin 1 collaboration

Azliza Ibrahim 1 collaboration

Wan Aliaa Wan Sulaiman 1 collaboration

Fan Kee Hoo 1 collaboration

Hamidon Basri 1 collaboration

Abdul Hanif Khan Yusof Khan 1 collaboration

Nigel G Laing 1 collaboration

Manju A Kurian 1 collaboration

Alison McLean 1 collaboration

Susan E Tomlinson 1 collaboration

Renee Smyth 1 collaboration

Sophie Devery 1 collaboration

Kathy H C Wu 1 collaboration

Megan H Brewer 1 collaboration

Carolyn Ly 1 collaboration

Andrew Burgess 1 collaboration

Suzanna Edgar 1 collaboration

Nur Adilah Abdul-Aziz 1 collaboration

Sara Negri 1 collaboration

Stephanie Barnes 1 collaboration

Stephen Reddel 1 collaboration

Matt C Danzi 1 collaboration

Eric Powell 1 collaboration

Adriana P Rebelo 1 collaboration

Maike F Dohrn 1 collaboration

Danique Beijer 1 collaboration

Sarah Fazal 1 collaboration

Isaac R L Xu 1 collaboration

Jessica Medina 1 collaboration

Sitong Chen 1 collaboration

Yeisha Arcia de Jesus 1 collaboration

Jacquelyn Schatzman 1 collaboration

Ray E Hershberger 1 collaboration

Jonathan Baets 1 collaboration

Marni Falk 1 collaboration

David N Herrmann 1 collaboration

Steven S Scherer 1 collaboration

Mary M Reilly 1 collaboration

Wilson Marques 1 collaboration

Mario R Carnejo-Olivas 1 collaboration

Oranee Sanmaneechai 1 collaboration

Thiago Y T Silva 1 collaboration

Jose Luiz Pedroso 1 collaboration

Luca Schierbaum 1 collaboration

Darius Ebrahimi-Fakhari 1 collaboration

Stojan Peric 1 collaboration

Yi-Chung Lee 1 collaboration

Matthis Synofzik 1 collaboration

Mustafa Tekin 1 collaboration

Mike Shy 1 collaboration

Nazli Basak 1 collaboration

Rebecca Schule 1 collaboration

Stephan Zuchner 1 collaboration

Edward Abadir 1 collaboration

Robin E Gasiorowski 1 collaboration

Fiona Kupresanin 1 collaboration

Adelina Romano 1 collaboration

Pablo A Silveira 1 collaboration

Tsun-Ho Lo 1 collaboration

Phillip D Fromm 1 collaboration

Harry J Iland 1 collaboration

P Joy Ho 1 collaboration

P Mark Hogarth 1 collaboration

Kenneth Bradstock 1 collaboration

Derek N J Hart 1 collaboration

Georgina J Clark 1 collaboration

Shelisa Tey 1 collaboration

Alexander P Drew 1 collaboration

Sarimah Samulong 1 collaboration

Esra Battaloglu 1 collaboration

Derek Atkinson 1 collaboration

Yesim Parman 1 collaboration

Ki Wha Chung 1 collaboration

Byung-Ok Choi 1 collaboration

Yi-Chung Li 1 collaboration

Michaela Auer-Grumbach 1 collaboration

Natasha B Golovchenko 1 collaboration

Kishore Kumar 1 collaboration

Anthony Antonellis 1 collaboration

A Cutrupi 1 collaboration

R Screnci 1 collaboration

D Mao 1 collaboration

M Uesugi 1 collaboration

Eppie M Yiu 1 collaboration

Monique M Ryan 1 collaboration

B O Choi 1 collaboration

G Nicholson 1 collaboration

A Ashe 1 collaboration

B Grosz 1 collaboration

S Vucic 1 collaboration

M C Kiernan 1 collaboration

K A Morris 1 collaboration

S W Reddel 1 collaboration

Samantha Bryen 1 collaboration

Cas Simons 1 collaboration

Andre L M Reis 1 collaboration

Garth Nicholson 1 collaboration

Nigel Laing 1 collaboration

Mathew Wallis 1 collaboration