Garth A. Nicholson : rechercher sur Z-Library

Stefanie Sander, Garth A. Nicholson, Robert A. Ouvrier, James G. McLeod, John D. Pollard

Année:

1986

Langue:

english

Fichier:

PDF, 454 KB

english, 1986

Charcot-Marie-Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and Connexin32 mutations (CMTX1)

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 693 KB

english, 1998

The dominantly inherited motor and sensory neuropathies: Clinical and molecular advances

Garth A. Nicholson

Journal:

Dr. Garth A. Nicholson, Scott Hawkins, James G. McLeod

Année:

2006

Langue:

english

Fichier:

PDF, 188 KB

english, 2006

Effect of neural activity on skeletal muscle phosphoproteins

Journal:

FEMS Microbiology Letters

Année:

1990

Langue:

english

Fichier:

PDF, 523 KB

english, 1990

Copper deficiency in potato dextrose agar causes reduced pigmentation in cultures of various fungi

Garth W. Griffith, Gary L. Easton, Andrew Detheridge, Kevin Roderick, Arwyn Edwards, Hilary J. Worgan, Jean Nicholson, William T. Perkins

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2007

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:

Lana A. del Porto, Garth A. Nicholson, Pon Ketheswaren

Année:

2012

Langue:

english

Fichier:

PDF, 113 KB

english, 2012

Correlation between muscle atrophy on MRI and manual strength testing in hereditary neuropathies

Journal:

Journal of Clinical Neuroscience

Année:

2010

Langue:

english

Fichier:

PDF, 195 KB

english, 2010

Charcot–Marie–Tooth – A Practical Guide, 2nd ed. Researched and written by John Isitt for CMT United Kingdom (2006). Available as CD or loose leaf binder from . £6

Garth Nicholson

Journal:

Neuromuscular Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

Is there acetylcholine receptor in human thymus?

Garth A. Nicholson, Stanley H. Appel

Journal:

Journal of the Neurological Sciences

Année:

1977

Langue:

english

Fichier:

PDF, 421 KB

english, 1977

Controversies and priorities in amyotrophic lateral sclerosis

Turner, Martin R, Hardiman, Orla, Benatar, Michael, Brooks, Benjamin R, Chio, Adriano, de Carvalho, Mamede, Ince, Paul G, Lin, Cindy, Miller, Robert G, Mitsumoto, Hiroshi, Nicholson, Garth, Ravits, Jo

Journal:

The Lancet Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 549 KB

english, 2013

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:

Fifita, Jennifer A., Williams, Kelly L., McCann, Emily P., O'Brien, Aidan, Bauer, Denis C., Nicholson, Garth A., Blair, Ian P.

Année:

2013

Langue:

english

Fichier:

PDF, 176 KB

english, 2013

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis

Journal:

Neurobiology of Aging

Année:

2015

Langue:

english

Fichier:

PDF, 171 KB

english, 2015

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy

Sawyer, Sarah L., Cheuk-Him Ng, Andy, Innes, A. Micheil, Wagner, Justin D., Dyment, David A., Tetreault, Martine, Majewski, Jacek, Boycott, Kym M., Screaton, Robert A., Nicholson, Garth

Journal:

Human Molecular Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 930 KB

english, 2015

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

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, Simr

Journal:

JAMA Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 314 KB

english, 2015

Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated With Mitofusin 2 Mutations

Vallat, Jean-Michel, Ouvrier, Robert A., Pollard, John D., Magdelaine, Corinne, Zhu, Danqing, Nicholson, Garth A., Grew, Simon, Ryan, Monique M., Funalot, Benoît

Journal:

Journal of Neuropathology and Experimental Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 540 KB

english, 2008

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

Année:

2015

Langue:

english

Fichier:

PDF, 195 KB

english, 2015

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

Année:

2013

Langue:

english

Fichier:

PDF, 1.71 MB

english, 2013

Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus

Rudnik-Sch�neborn, Sabine, Nicholson, Garth A., Morgan, Graeme, R�hrig, Dorothee, Zerres, Klaus

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 113 KB

english, 1998

Clinical and genetic study of Friedreich ataxia in an Australian population

Delatycki, Martin B., Paris, Damien B.B.P., Gardner, R.J. McKinlay, Nicholson, Garth A., Nassif, Najah, Storey, Elsdon, MacMillan, John C., Collins, Veronica, Williamson, Robert, Forrest, Susan M.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 90 KB

english, 1999

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

Elsdon Storey, Desiree du Sart, Janet H. Shaw, Peter Lorentzos, Louise Kelly, R.J. McKinley Gardner, Susan M. Forrest, Ivan Biros, Garth A. Nicholson

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 263 KB

english, 2000

Variable phenotype of Alzheimer's disease with spastic paraparesis

Margaret J. Smith, John B.J. Kwok, Catriona A. McLean, Jillian J. Kril, G. Anthony Broe, Garth A. Nicholson, Roberto Cappai, Marianne Hallupp, Richard G.H. Cotton, Colin L. Masters, Peter R. Schofield

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 6.37 MB

english, 2001

Charcot-Marie-Tooth neuropathy type 1A mutation: Apparent crossovers with D17S122 are due to a duplication

Dr. Garth A. Nicholson, Marina L. Kennerson, Bronya J. B. Keats, Nikola Mesterovic, Wayne Churcher, David Barker, David A. Ross

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 510 KB

english, 1992

Tau haplotypes regulate transcription and are associated with Parkinson's disease

John B. J. Kwok, Erdahl T. Teber, Clement Loy, Marianne Hallupp, Garth Nicholson, George D. Mellick, Daniel D. Buchanan, Peter A. Silburn, Peter R. Schofield

Journal:

Annals of Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 195 KB

english, 2004

Clinical and pathological features of a parkinsonian syndrome in a family with an Ala53Thr α-synuclein mutation

Paul J. Spira, David M. Sharpe, Glenda Halliday, Julie Cavanagh, Garth A. Nicholson

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 549 KB

english, 2001

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation

Linda J. Valentijn, Robert A. Ouvrier, Norbert H. A. Van Den Bosch, Pieter A. Bolhuis, Frank Baas, Garth A. Nicholson

Journal:

Human Mutation

Année:

1995

Langue:

english

Fichier:

PDF, 588 KB

english, 1995

De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): Two amino acid insertion after Asp 118

Tohru Ikegami, Garth Nicholson, Hiroyuki Ikeda, Akihiro Ishida, Heather Johnston, Grahame Wise, Robert Ouvrier, Kiyoshi Hayasaka

Journal:

Human Mutation

Année:

1998

Langue:

english

Fichier:

PDF, 314 KB

english, 1998

Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion

Danqing Zhu, Christopher Burke, Anthony Leslie, Garth A. Nicholson

Journal:

Movement Disorders

Année:

2002

Langue:

english

Fichier:

PDF, 194 KB

english, 2002

“Dancing feet dyskinesias”: A clue to parkin gene mutations

Florence C.F. Chang, Prachi Mehta, Brianada Koentjoro, Mark Latt, Nick Blair, Garth Nicholson, Carolyn M. Sue, Victor S.C. Fung

Journal:

Movement Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 694 KB

english, 2012

Proteolysis and invasiveness of brain tumors: Role of urokinase-type plasminogen activator receptor

Sanjeeva Mohanam, Raymond E. Sawaya, Masaaki Yamamoto, Janet M. Bruner, Garth L. Nicholson, Jasti S. Rao

Journal:

Journal of Neuro-Oncology

Année:

1994

Langue:

english

Fichier:

PDF, 1.05 MB

english, 1994

A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36

Sumana Gopinath, Ian P. Blair, Marina L. Kennerson, Jennifer C. Durnall, Garth A. Nicholson

Journal:

Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 307 KB

english, 2007

Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis

Dennis J. Hulme, Ian P. Blair, Jennifer L. Dawkins, Garth A. Nicholson

Journal:

Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 129 KB

english, 2000

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:

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

Année:

2003

Langue:

english

Fichier:

PDF, 177 KB

english, 2003

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

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 157 KB

english, 2004

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:

Thorsten Hornemann, Anke Penno, Stephane Richard, Garth Nicholson, Fleur S. van Dijk, Annelies Rotthier, Vincent Timmerman, Arnold von Eckardstein

Année:

2008

Langue:

english

Fichier:

PDF, 208 KB

english, 2008

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 238 KB

english, 2009

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:

Année:

2010

Langue:

english

Fichier:

PDF, 83 KB

english, 2010

The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in theFRDAgene

S. M. Forrest, Melanie Knight, Martin B. Delatycki, Damien Paris, Robert Williamson, John King, Leone Yeung, Najah Nassif, Garth A. Nicholson

Journal:

Jo M Wilmshurst, John D Pollard, Garth Nicholson, Jayne Antony

Année:

1998

Langue:

english

Fichier:

PDF, 1.37 MB

english, 1998

K-RAS MUTATION AND LOSS OF HETEROZYGOSITY OF CHROMOSOME 17P AND SURVIVAL IN COLORECTAL CANCER

Caroline Fung, Tara Bragg, Ronald Newland, Owen Dent, Garth Nicholson, Lesley BOKEY, Pierre Chapuis

Journal:

ANZ Journal of Surgery

Année:

1997

Langue:

english

Fichier:

PDF, 620 KB

english, 1997

Peripheral neuropathies of infancy

Journal:

Developmental Medicine & Child Neurology

Année:

2003

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2003

Agroindustrialization through institutional innovation Transaction costs, cooperatives and milk-market development in the east-African highlands

Garth Holloway, Charles Nicholson, Chris Delgado, Steve Staal, Simeon Ehui

Journal:

Agricultural Economics

Année:

2000

Langue:

english

Fichier:

PDF, 821 KB

english, 2000

A revised Tobit procedure for mitigating bias in the presence of non-zero censoring with an application to milk-market participation in the Ethiopian highlands

Garth Holloway, Charles Nicholson, Chris Delgado, Steve Staal, Simeon Ehui

Journal:

Agricultural Economics

Année:

2004

Langue:

english

Fichier:

PDF, 825 KB

english, 2004

Mutation Testing in Charcot-Marie-Tooth Neuropathy

GARTH A. NICHOLSON

Journal:

Annals of the New York Academy of Sciences

Année:

1999

Fichier:

PDF, 416 KB

1999

10.1038/85879

Dawkins, Jennifer L., Hulme, Dennis J., Brahmbhatt, Sonal B., Auer-Grumbach, Michaela, Nicholson, Garth A.

Journal:

Klein, Christopher J, Botuyan, Maria-Victoria, Wu, Yanhong, Ward, Christopher J, Nicholson, Garth A, Hammans, Simon, Hojo, Kaori, Yamanishi, Hiromitch, Karpf, Adam R, Wallace, Douglas C

Année:

2001

Langue:

english

Fichier:

PDF, 100 KB

english, 2001

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

Journal:

Nicholson, Garth A., Valentijn, Linda J., Cherryson, Annia K., Kennerson, Marina L., Bragg, Tara L., DeKroon, Robert M., Ross, David A., Pollard, John D., Mcleod, James G., Bolhuis, Pieter A.

Année:

2011

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2011

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

Journal:

Nicholson, Garth A., Dawkins, Jennifer L., Blair, Ian P., Kennerson, Marina L., Gordon, Melissa J., Cherryson, Annia K., Nash, Janet, Bananis, Tessy

Année:

1994

Fichier:

PDF, 412 KB

1994

The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22.1–q22.3

Journal:

Année:

1996

Fichier:

PDF, 422 KB

1996

De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

Hayasaka, Kiyoshi, Himoro, Masato, Sawaishi, Yukio, Nanao, Kenji, Takahashi, Tsutomu, Takada, Goro, Nicholson, Garth A., Ouvrier, Robert A., Tachi, Nobutada

Journal: