Monckton, Darren: search on Z-Library

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1

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1

Landfeldt, Erik, Nikolenko, Nikoletta, Jimenez-Moreno, Cecilia, Cumming, Sarah, Monckton, Darren G., Faber, Catharina G., Merkies, Ingemar S. J., Gorman, Grainne, Turner, Chris, LochmÃ¼ller, Hanns

Journal:

Journal of Neurology

Year:

2020

File:

PDF, 579 KB

2020

2

Four-state MVR-PCR: increased discrimination of digital DNA typing by simultaneous analysis of two polymorphic sites within minisatellite variant repeats at D1S8

Tamakl, Keiji, Monckton, Darren G., MacLeod, Annette, Allen, Maxine, Jeffreys, Alec J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.99 MB

english, 1993

3

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Okkersen, Kees, Jimenez-Moreno, Cecilia, Wenninger, Stephan, Daidj, Ferroudja, Glennon, Jeffrey, Cumming, Sarah, Littleford, Roberta, Monckton, Darren G, Lochmüller, Hanns, Catt, Michael, Faber, Catha

Journal:

The Lancet Neurology

Year:

2018

Language:

english

File:

PDF, 185 KB

english, 2018

4

In search of Robert Bruce, part I: Craniofacial analysis of the skull excavated at Dunfermline in 1819

Wilkinson, Caroline M., Roughley, Mark, Moffat, Ralph D., Monckton, Darren G., MacGregor, Martin

Journal:

Journal of Archaeological Science: Reports

Year:

2019

Language:

english

File:

PDF, 1.10 MB

english, 2019

5

Survival and CTG repeat expansion in adults with myotonic dystrophy type 1

William J. Groh, Miriam R. Groh, Changyu Shen, Darren G. Monckton, Cynthia L. Bodkin, Robert M. Pascuzzi

Journal:

Year:

2011

Language:

english

File:

PDF, 208 KB

english, 2011

6

Complex gene conversion events in germline mutation at human minisatellites

Jeffreys, Alec J., Tamaki, Keiji, MacLeod, Annette, Monckton, Darren G., Neil, David L., Armour, John A.L.

Journal:

Nature Genetics

Year:

1994

File:

PDF, 1.85 MB

1994

7

Manage risk of accidental gene editing of germline

Monckton, Darren G.

Journal:

Year:

2019

Language:

english

File:

PDF, 54 KB

english, 2019

8

2010 Marigold therapeutic strategies for myotonic dystrophy

Karla Blonsky, Darren Monckton, Bé Wieringa, Benedikt Schoser, John W. Day, Baziel van Engelen

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 126 KB

english, 2012

9

Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1

Claudia Abbruzzese, Sandro Costanzi Porrini, Bruno Mariani, Fiona K. Gould, John P. Mcabney, Darren G. Monckton, Tetsuo Ashizawa, Manlio Giacanelli

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 356 KB

english, 2002

10

Inherited CAG·CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

Nicola J. Veitch, Margaret Ennis, John P. McAbney, Peggy F. Shelbourne, Darren G. Monckton

Journal:

Year:

2007

Language:

english

File:

PDF, 409 KB

english, 2007

11

DNA profiling

Darren G Monckton, Alec J Jeffreys

Journal:

Current Opinion in Biotechnology

Year:

1993

Language:

english

File:

PDF, 512 KB

english, 1993

12

Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice

Larson, Eloise, Fyfe, Ian, Morton, A. Jennifer, Monckton, Darren G.

Journal:

Neurobiology of Disease

Year:

2015

Language:

english

File:

PDF, 2.02 MB

english, 2015

13

[BMJ Publishing Group Ltd EHDN 2018 Plenary Meeting, Vienna, Austria, Programme and Abstracts - ()] Pathogenic mechanisms - A01âDetermining the CAG repeat mosaic in post-mortem human HD brains

Ging, Heather, Nethisinghe, Suran, Chatzi, Afroditi, Ciosi, Marc, Monckton, Darren G, Giunti, Paola

Year:

2018

File:

PDF, 63 KB

2018

14

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, NÃºÃ±ez-ManchÃ³n, Judit, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Puente, Carles Puente, Lucia, Alejandro, Monckton, Darren

Journal:

Year:

2020

File:

PDF, 918 KB

2020

15

Characterization and Genomic Mapping of Genes and Pseudogenes of a New Human Protein Tyrosine Phosphatase

Zhaoyang Zhao, Cheng-Chi Lee, Darren G. Monckton, Ali Yazdani, Mary I. Coolbaugh, Xiaoru Li, Jennifer Bailey, Ying Shen, C.Thomas Caskey

Journal:

Year:

1996

Language:

english

File:

PDF, 771 KB

english, 1996

16

Minisatellite âisoalleleâ discrimination in pseudohomozygotes by single molecule PCR and variant repeat mapping

Monckton, Darren G., Jeffreys, Alec J.

Journal:

Year:

1991

Language:

english

File:

PDF, 881 KB

english, 1991

17

Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

Corrales, Eyleen, Vásquez, Melissa, Zhang, Baili, Santamaría-Ulloa, Carolina, Cuenca, Patricia, Krahe, Ralf, Monckton, Darren G., Morales, Fernando, Chernov, Andrei

Journal:

Year:

2019

File:

PDF, 1.91 MB

2019

18

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

Monckton, Darren G., Coolbaugh, Mary I., Ashizawa, Ken T., Siciliano, Michael J., Caskey, C. Thomas

Journal:

Nature Genetics

Year:

1997

File:

PDF, 648 KB

1997

19

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

Morales, Fernando, Vásquez, Melissa, Santamaría, Carolina, Cuenca, Patricia, Corrales, Eyleen, Monckton, Darren G.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.47 MB

english, 2016

20

Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report

Rachel Thompson, Benedikt Schoser, Darren G. Monckton, Karla Blonsky, Hanns Lochmüller

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 162 KB

english, 2009

21

DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1

LÃ©garÃ©, CÃ©cilia, Overend, Gayle, Guay, Simon-Pierre, Monckton, Darren G., Mathieu, Jean, Gagnon, Cynthia, Bouchard, Luigi

Journal:

Neurology: Genetics

Year:

2019

File:

PDF, 394 KB

2019

22

Minisatellite repeat coding as a digital approach to DNA typing

Jeffreys, Alec J., MacLeod, Annette, Tamaki, Keiji, Neil, David L., Monckton, Darren G.

Journal:

Year:

1991

File:

PDF, 1.12 MB

1991

23

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

Martorell, Loreto, Monckton, Darren G, Gamez, José, Baiget, Montserrat

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 204 KB

english, 2000

24

Estimating mutant microsatellite allele frequencies in somatic cells by small-pool PCR

Mary Coolbaugh-Murphy, Atousa Maleki, Lou Ramagli, Marsha Frazier, Benjamin Lichtiger, Darren G. Monckton, Michael J. Siciliano, Barry W. Brown

Journal:

Year:

2004

Language:

english

File:

PDF, 286 KB

english, 2004

25

Detection of radiation and cyclophosphamide-induced mutations in individual mouse sperm at a human expanded trinucleotide repeat locus transgene

Yun Zhang, Darren G. Monckton, Michael J. Siciliano, Thomas H. Connor, Marvin L. Meistrich

Journal:

Mutation Research/Genetic Toxicology and Environmental Mutagenesis

Year:

2002

Language:

english

File:

PDF, 248 KB

english, 2002

26

Brain imaging in myotonic dystrophy type 1

Okkersen, Kees, Monckton, Darren G., Le, Nhu, Tuladhar, Anil M., Raaphorst, Joost, van Engelen, Baziel G.M.

Journal:

Year:

2017

Language:

english

File:

PDF, 484 KB

english, 2017

27

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI

Heskamp, Linda, van Nimwegen, Marlies, Ploegmakers, Marieke J., Bassez, Guillaume, Deux, Jean-Francois, Cumming, Sarah A., Monckton, Darren G., van Engelen, Baziel G.M., Heerschap, Arend

Journal:

Year:

2019

File:

PDF, 975 KB

2019

28

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1

Morales, Fernando, Vásquez, Melissa, Cuenca, Patricia, Campos, Domingo, Santamaría, Carolina, del Valle, Gerardo, Brian, Roberto, Sittenfeld, Mauricio, Monckton, Darren G

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

29

Myotonic dystrophy: An unstable CTG repeat in a protein kinase gene

Luba Timchenko, Darren G. Monckton, C.Thomas Caskey

Journal:

Seminars in Cell Biology

Year:

1995

Language:

english

File:

PDF, 1.55 MB

english, 1995

30

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)

DiPaolo, Giovanni, Jimenez-Moreno, Cecilia, Nikolenko, Nikoletta, Atalaia, Antonio, Monckton, Darren G., Guglieri, Michela, Lochmüller, Hanns

Journal:

Journal of Neurology

Year:

2017

Language:

english

File:

PDF, 418 KB

english, 2017

31

A2 Cryptic polyglutamine repeat sequence variation and somatic instability in huntington’s disease: drivers of pathology?

Monckton, Darren, Ciosi, Marc, Mubarak, Asma, Cumming, Sarah, Hamilton, Graham, Maxwell, Alastair

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2016

Language:

english

File:

PDF, 61 KB

english, 2016

32

Structural white matter networks in myotonic dystrophy type 1

van Dorst, Maud, Okkersen, Kees, Kessels, Roy P.C., Meijer, Frederick J.A., Monckton, Darren G., van Engelen, Baziel G.M., Tuladhar, Anil M., Raaphorst, Joost

Journal:

NeuroImage: Clinical

Year:

2018

Language:

english

File:

PDF, 769 KB

english, 2018

33

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1

Miller, Jacob N., van der Plas, Ellen, Hamilton, Mark, Koscik, Timothy R., Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Nopoulos, Peggy C.

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 362 KB

2020

34

Manage risk of accidental gene editing of germline

Monckton, Darren G.

Journal:

Year:

2019

File:

PDF, 54 KB

2019

35

DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1

Breton, Ãdith, LÃ©garÃ©, CÃ©cilia, Overend, Gayle, Guay, Simon-Pierre, Monckton, Darren, Mathieu, Jean, Gagnon, Cynthia, Richer, Louis, Gallais, Benjamin, Bouchard, Luigi

Journal:

Year:

2020

File:

PDF, 1.14 MB

2020

36

Instability of the Expanded (CTG)nRepeats in the Myotonin Protein Kinase Gene in Cultured Lymphoblastoid Cell Lines from Patients with Myotonic Dystrophy

Tetsuo Ashizawa, Darren G. Monckton, Sukeshi Vaishnav, Bhavna J. Patel, Alica Voskova, C.Thomas Caskey

Journal:

Year:

1996

Language:

english

File:

PDF, 238 KB

english, 1996

37

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

Botta, Annalisa, Rossi, Giulia, Marcaurelio, Marzia, Fontana, Luana, D'Apice, Maria Rosaria, Brancati, Francesco, Massa, Roberto, G Monckton, Darren, Sangiuolo, Federica, Novelli, Giuseppe

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 445 KB

english, 2016

38

Reply: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreichâs ataxia

Flower, Michael, Lomeikaite, Vilija, Holmans, Peter, Jones, Lesley, Tabrizi, Sarah J, Monckton, Darren G

Journal:

Year:

2020

File:

PDF, 364 KB

2020

39

Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects

Kim, Kyung-Hee, Hong, Eun Pyo, Shin, Jun Wan, Chao, Michael J., Loupe, Jacob, Gillis, Tammy, Mysore, Jayalakshmi S., Holmans, Peter, Jones, Lesley, Orth, Michael, Monckton, Darren G., Long, Jeffrey D.

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 938 KB

2020

40

The use of buccal cells for rapid diagnosis of myotonic dystrophy type 1

Ian Holt, Ros C. M. Quinlivan, Jillian M. Couto, Darren G. Monckton, Glenn E. Morris

Journal:

Translational Neuroscience

Year:

2010

Language:

english

File:

PDF, 1.77 MB

english, 2010

41

Minisatellite variant repeat (MVR) mapping: analysis of ‘null’ repeat units at D1S8

Tamaki, Keiji, Monckton, Darren G., MacLeod, Annette, Neil, David L., Allen, Maxine, Jeffreys, Alec J.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.00 MB

english, 1992

42

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset

Morales, Fernando, VÃ¡squez, Melissa, Corrales, Eyleen, Vindas-Smith, Rebeca, SantamarÃa-Ulloa, Carolina, Zhang, Baili, Sirito, Mario, Estecio, Marcos R, Krahe, Ralf, Monckton, Darren G

Journal:

Human Molecular Genetics

Year:

2020

File:

PDF, 999 KB

2020

43

Frequency of minisatellite repeat number changes at the MS205 locus in human sperm before and after cancer chemotherapy

Ningjia Zheng, Darren G. Monckton, Gene Wilson, Fredrick Hagemeister, Ranajit Chakraborty, Thomas H. Connor, Michael J. Siciliano, Marvin L. Meistrich

Journal:

Environmental and Molecular Mutagenesis

Year:

2000

Language:

english

File:

PDF, 114 KB

english, 2000

44

Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome

Hollies, Caroline R, Monckton, Darren G, Jeffreys, Alec J

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 126 KB

english, 2001

45

[BMJ Publishing Group Ltd EHDN 2018 Plenary Meeting, Vienna, Austria, Programme and Abstracts - ()] Genetic modifiers - C03âA CIS-acting modifier of age at diagnosis of huntington disease in black south african patients

Levesley, Jessica, Baine, Fiona, Ciosi, Marc, Maxwell, Alastair, Monckton, Darren G, Krause, Amanda

Year:

2018

File:

PDF, 72 KB

2018

46

Muscleblind isoforms are functionally distinct and regulate α-actinin splicing

Marta Vicente, Lidón Monferrer, Michael G. Poulos, Jonathan Houseley, Darren G. Monckton, Kevin M.C. O'Dell, Maurice S. Swanson, Rubén D. Artero

Journal:

Differentiation

Year:

2007

Language:

english

File:

PDF, 1.36 MB

english, 2007

47

Using robots to find needles

Darren G. Monckton

Journal:

Mechanisms of Ageing and Development

Year:

2005

Language:

english

File:

PDF, 188 KB

english, 2005

48

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR

Gomes-Pereira, Mário, Monckton, Darren G.

Journal:

Frontiers in Cellular Neuroscience

Year:

2017

Language:

english

File:

PDF, 2.35 MB

english, 2017

49

Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

Monckton, Darren G., Neumann, Rita, Guram, Tara, Fretwell, Neale, Tamaki, Keiji, MacLeod, Annette, Jeffreys, Alec J.

Journal:

Nature Genetics

Year:

1994

File:

PDF, 1.06 MB

1994

50

Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down

Mário Gomes-Pereira, Darren G. Monckton

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Year:

2006

Language:

english

File:

PDF, 415 KB

english, 2006

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