Dunoe, Morten: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Muscle phenotype in patients with myotonic dystrophy type 1

Andersen, Grete, Ørngreen, Mette C., Preisler, Nicolai, Colding-J⊘rgensen, Eskild, Clausen, Torben, Duno, Morten, Jeppesen, Tina D., Vissing, John

Journal:

Year:

2013

Language:

english

File:

PDF, 161 KB

english, 2013

2

Erratum to: Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands

Rasmussen, Jan, Nielsen, Olav W., Janzen, Nils, Duno, Morten, Gislason, Hannes, Køber, Lars, Steuerwald, Ulrike, Lund, Allan M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

3

Leber hereditary optic neuropathy due to a new ND1 mutation

Soldath, Patrick, Wegener, Marianne, Sander, Birgit, Rosenberg, Thomas, Duno, Morten, Wibrand, Flemming, Vissing, John

Journal:

Ophthalmic Genetics

Year:

2017

Language:

english

File:

PDF, 877 KB

english, 2017

4

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

Witting, Nanna, Werlauff, Ulla, Duno, Morten, Vissing, John

Journal:

Year:

2016

Language:

english

File:

PDF, 481 KB

english, 2016

5

Ocular albinism with infertility and late-onset sensorineural hearing loss

Fabian-Jessing, Bjørn K., Vestergaard, Else Marie, Plomp, Astrid S., Bergen, Arthur A., Dreschler, Wouter A., Duno, Morten, Winiarska, Beata S., Neumann, Linda, Gaihede, Michael, Vorum, Henrik, Peters

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 902 KB

english, 2018

6

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report

Soldath, Patrick, Madsen, Karen Lindhardt, Buch, Astrid Emilie, Duno, Morten, Wibrand, Flemming, Vissing, John

Journal:

BMC Musculoskeletal Disorders

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

7

Two new Rett syndrome families and review of the literature: expanding the knowledge ofMECP2frameshift mutations

Kirstine Ravn, Gitte Roende, Morten Duno, Kathrine Fuglsang, Kristin L Eiklid, Zeynep Tümer, Jytte B Nielsen, Ola H Skjeldal

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 338 KB

english, 2011

8

Permanent muscle weakness in hypokalemic periodic paralysis

Holm-Yildiz, Sonja, Witting, Nanna, Dahlqvist, Julia, de Stricker Borch, Josefine, Solheim, Tuva, Fornander, Freja, Eisum, Anne-Sofie, Duno, Morten, Soerensen, Troels, Vissing, John

Journal:

Year:

2020

File:

PDF, 891 KB

2020

9

LGMD2L with bone affection: Overlapping phenotype of dominant and recessive ANO5-induced disease

Witting, Nanna, Duno, Morten, Born, Alfred Peter, Vissing, John

Journal:

Year:

2012

Language:

english

File:

PDF, 113 KB

english, 2012

10

BAG3 myopathy is not always associated with cardiomyopathy

Andersen, Annarita Ghosh, Fornander, Freja, Schrøder, Henrik Daa, Krag, Thomas, Straub, Volker, Duno, Morten, Vissing, John

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 1.40 MB

english, 2018

11

High-resolution Melting Facilitates Mutation Screening of PYGM in Patients with McArdle Disease

Morten Duno, Ros Quinlivan, John Vissing, Marianne Schwartz

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 197 KB

english, 2009

12

Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy

Vissing, Christoffer Rasmus, Duno, Morten, Wibrand, Flemming, Christensen, Mette, Vissing, John

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2019

Language:

english

File:

PDF, 447 KB

english, 2019

13

Identification of a Novel Androgen Receptor Mutation in a Family With Multiple Components Compatible With the Testicular Dysgenesis Syndrome

Lottrup, Grete, Jørgensen, Anne, Nielsen, John E., Jørgensen, Niels, Duno, Morten, Vinggaard, Anne Marie, Skakkebæk, Niels E., Rajpert-De Meyts, Ewa

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2013

Language:

english

File:

PDF, 1.45 MB

english, 2013

14

Characterization of two new dominant ClC-1 channel mutations associated with myotonia

Morten Grunnet, Thomas Jespersen, Eskild Colding-Jørgensen, Marianne Schwartz, Dan A. Klaerke, John Vissing, Søren-Peter Olesen, Morten Dunø

Journal:

Year:

2003

Language:

english

File:

PDF, 393 KB

english, 2003

15

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

Toft, Anders, Birk, Steffen, Ballegaard, Martin, Dunø, Morten, Hjermind, Lena E., Nielsen, Jørgen E., Svenstrup, Kirsten

Journal:

Journal of Neurology

Year:

2019

Language:

english

File:

PDF, 858 KB

english, 2019

16

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

Simon Hauerslev, Marie-Louise Sveen, Morten Duno, Corrado Angelini, John Vissing, Thomas O Krag

Journal:

BMC Musculoskeletal Disorders

Year:

2012

Language:

english

File:

PDF, 336 KB

english, 2012

17

Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations

Flemming Wibrand, Tina D. Jeppesen, Anja L. Frederiksen, David B. Olsen, Morten Duno, Marianne Schwartz, John Vissing

Journal:

Year:

2010

Language:

english

File:

PDF, 348 KB

english, 2010

18

Improved Molecular Diagnosis of Dystrophin Gene Mutations Using the Multiplex Ligation-Dependent Probe Amplification Method

Schwartz, Marianne, Dunø, Morten

Journal:

Genetic Testing

Year:

2004

Language:

english

File:

PDF, 126 KB

english, 2004

19

Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts

Witting, Nanna, Krag, Thomas, Werlauff, Ulla, Duno, Morten, Oestergaard, Sofie Thuroe, Dahlqvist, Julia Rebecka, Vissing, John

Journal:

Year:

2018

Language:

english

File:

PDF, 1.10 MB

english, 2018

20

A mitochondrial tRNAMet mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood

Born, Alfred Peter, Duno, Morten, Rafiq, Jabin, Risom, Lotte, Wibrand, Flemming, Østergaard, Elsebet, Vissing, John

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 520 KB

english, 2015

21

Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life

Faurschou, Signe, Mouritsen, Annette, Johannsen, Trine H., Hougaard, David M., Cohen, Arieh, Duno, Morten, Juul, Anders, Main, Katharina M.

Journal:

Acta Paediatrica

Year:

2015

Language:

english

File:

PDF, 272 KB

english, 2015

22

Prevalence of SHOX Haploinsufficiency among Short Statured Children

Marstrand-Joergensen, Maja Rou, Beck Jensen, Rikke, Aksglaede, Lise, Dunoe, Morten, Juul, Anders

Journal:

Pediatric Research

Year:

2016

Language:

english

File:

PDF, 1.76 MB

english, 2016

23

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study

Andersen, Grete, Hedermann, Gitte, Witting, Nanna, Duno, Morten, Andersen, Henning, Vissing, John

Journal:

Year:

2017

Language:

english

File:

PDF, 415 KB

english, 2017

24

Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores

Clausen, CarolineÂ S., Ljubicic, MarieÂ L., Main, KatharinaÂ M., Andersson, Anna-Maria, Petersen, JÃ¸rgenÂ H., Frederiksen, Hanne, Duno, Morten, Johannsen, TrineÂ H., Juul, Anders

Journal:

Hormone Research in Paediatrics

Year:

2020

File:

PDF, 366 KB

2020

25

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

Bross, Peter, Frederiksen, Jane B., Bie, Anne S., Hansen, Jakob, Palmfeldt, Johan, Nielsen, Marit N., Duno, Morten, Lund, Allan M., Christensen, Ernst

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 456 KB

english, 2012

26

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark

Witting, Nanna, Werlauff, Ulla, Duno, Morten, Vissing, John

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 645 KB

english, 2017

27

Inherited Cardiac Diseases: Preimplantation Genetic Diagnosis - An Attractive Alternative to Prenatal Diagnosis

Theilade, Juliane, Dunø, Morten, Ziebe, Søren, Bundgaard, Henning

Journal:

European Journal of Cardiovascular Medicine

Year:

2010

Language:

english

File:

PDF, 169 KB

english, 2010

28

Phenotypic variability in Muenke syndrome—observations from five Danish families

Öwall, Louise, Kreiborg, Sven, Dunø, Morten, Hermann, Nuno V., Darvann, Tron A., Hove, Hanne

Journal:

Clinical Dysmorphology

Year:

2020

File:

PDF, 461 KB

2020

29

Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient

Witting, Nanna, Crone, Clarissa, Duno, Morten, Vissing, John

Journal:

Clinical Neurology and Neurosurgery

Year:

2015

Language:

english

File:

PDF, 664 KB

english, 2015

30

Hearing impairment and renal failure associated with RMND1 mutations

Ravn, Kirstine, Neland, Mette, Wibrand, Flemming, Duno, Morten, Ostergaard, Elsebet

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 439 KB

english, 2016

31

Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?

Vissing, John, Duno, Morten

Journal:

Year:

2016

Language:

english

File:

PDF, 170 KB

english, 2016

32

Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes

Upners, Emmie N., Jensen, Rikke B., Rajpert-De Meyts, Ewa, Dunø, Morten, Aksglaede, Lise, Juul, Anders

Journal:

Acta Paediatrica

Year:

2017

Language:

english

File:

PDF, 658 KB

english, 2017

33

Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population

Rosenberg, Thomas, Nørby, Søren, Schwartz, Marianne, Saillard, Juliette, Magalhães, Paulo J., Leroy, David, Kann, Erik C., Duno, Morten

Journal:

Investigative Opthalmology & Visual Science

Year:

2016

Language:

english

File:

PDF, 446 KB

english, 2016

34

Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH

Maria Kirchhoff, Søren Pedersen, Eigil Kjeldsen, Hanne Rose, Morten Dunø, Steen Kølvraa, Claes Lundsteen

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 108 KB

english, 2004

35

Homomeric interaction of the mouse Rad52 protein

Lumir Krejci, Bo Thomsen, Morten Duno, Ole Westergaard, Christian Bendixen

Journal:

Molecular Biology Reports

Year:

2000

Language:

english

File:

PDF, 64 KB

english, 2000

36

Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit

Kirstine Calloe, Lasse Steen Ravn, Nicole Schmitt, Jin Liang Sui, Morten Duno, Stig Haunso, Morten Grunnet, Jesper Hastrup Svendsen, Soren-Peter Olesen

Journal:

Biochemical and Biophysical Research Communications

Year:

2007

Language:

english

File:

PDF, 176 KB

english, 2007

37

Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion

Elsebet Ostergaard, Ernst Christensen, Elisabeth Kristensen, Bodil Mogensen, Morten Duno, Eric A. Shoubridge, Flemming Wibrand

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 242 KB

english, 2007

38

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression

Nanna Witting, Morten Duno, Helle Petri, Thomas Krag…

Journal:

Journal of Neurology

Year:

2013

Language:

english

File:

PDF, 377 KB

english, 2013

39

Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing

Mensah, Aurore, Witting, Nanna, Duno, Morten, Milea, Dan, Vissing, John

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2014

Language:

english

File:

PDF, 392 KB

english, 2014

40

Response

Witting, Nanna, Duno, Morten, Vissing, John

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 81 KB

english, 2013

41

A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

Drivenes, Bergitte, Born, Alfred Peter, Ek, Jakob, Dunoe, Morten, Uldall, Peter Vilhelm

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 199 KB

english, 2015

42

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

Nyboe, Daniel, Kreiborg, Sven, Darvann, Tron, Dunø, Morten, Nissen, Kamilla R., Hove, Hanne B.

Journal:

Clinical Dysmorphology

Year:

2018

Language:

english

File:

PDF, 398 KB

english, 2018

43

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

Hepp, Nicola, Frederiksen, Anja Lisbeth, Dunø, Morten, Jørgensen, Niklas Rye, Langdahl, Bente, Vedtofte, Poul, Hove, Hanne B., Hindsø, Klaus, Jensen, Jens-Erik Beck

Journal:

Calcified Tissue International

Year:

2019

Language:

english

File:

PDF, 754 KB

english, 2019

44

Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

Skov, Marianne, Bækvad‐Hansen, Marie, Hougaard, David M., Skogstrand, Kristin, Lund, Allan M., Pressler, Tania, Olesen, Hanne V., Duno, Morten

Journal:

Pediatric Pulmonology

Year:

2019

Language:

english

File:

PDF, 544 KB

english, 2019

45

dHPLC Screening of the NSD1 gene Identifies Nine Novel Mutations - Summary of the first 100 Sotos Syndrome Mutations

Melchior, Linea, Schwartz, Marianne, Duno, Morten

Journal:

Annals of Human Genetics

Year:

2005

Language:

english

File:

PDF, 83 KB

english, 2005

46

Deletion of exon 16 of the dystrophin gene is not associated with disease

Marianne Schwartz, Morten Dunø, Anne Lise Palle, Thomas Krag, John Vissing

Journal:

Year:

2007

Language:

english

File:

PDF, 163 KB

english, 2007

47

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

Dunø, Morten, Colding-Jørgensen, Eskild, Grunnet, Morten, Jespersen, Thomas, Vissing, John, Schwartz, Marianne

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 203 KB

english, 2004

48

Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status

Hoei-Hansen, Christina E., Dali, Christine í, Lyngbye, Troels J.B., Duno, Morten, Uldall, Peter

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 245 KB

english, 2014

49

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

Ravn, Kirstine, Schönewolf-Greulich, Bitten, Hansen, Rikke M., Bohr, Anna-Helene, Duno, Morten, Wibrand, Flemming, Ostergaard, Elsebet

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 711 KB

english, 2015

50

Molecular evaluation of 458 patients referred with a clinical diagnosis of familial Mediterranean fever in Scandinavia

Nanna Cornelius, Morten Duno

Journal:

Rheumatology International

Year:

2011

Language:

english

File:

PDF, 1.52 MB

english, 2011

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски