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Major involvement of trunk muscles in myotonic dystrophy type 1

Acta neurologica Scandinavica, 2016-12, Vol.134 (6), p.467-473

2016

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Pathological C‐fibres in patients with a chronic painful condition

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.567-578

2003

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Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

American journal of human genetics, 2000-04, Vol.66 (4), p.1407-1412

2000

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A homeobox gene, HLXB9 , is the major locus for dominantly inherited sacral agenesis

Nature genetics, 1998-12, Vol.20 (4), p.358-361

1998

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High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer

Journal of medical genetics, 2005-11, Vol.42 (11), p.877-880

2005

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CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S232-S233

2015

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Active "itch fibers" in chronic pruritus

Neurology, 2003-08, Vol.61 (4), p.564

2003

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S48: Microneurography – a neurophysiological research method for understanding mechanisms important for neuropathic pain

Clinical neurophysiology, 2014-06, Vol.125, p.S10-S11

Ørstavik, K

2014

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Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection

American journal of human genetics, 2003, Vol.72 (1), p.218-219

2003

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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

Nature genetics, 1994-09, Vol.8 (1), p.52-58

1994

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The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

American journal of human genetics, 1997-10, Vol.61 (4), p.862-867

1997

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Catecholamine-induced excitation of nociceptors in sympathetically maintained pain

Pain (Amsterdam), 2007-02, Vol.127 (3), p.296-301

2007

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X-linked genetic factors regulate hematopoietic stem-cell kinetics in females

Blood, 2000-04, Vol.95 (7), p.2449-2451

2000

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P25-19 Can the clinical presentation of erythromelalgia (EM) differentiate between patients with and without mutations in Nav1.7?

Clinical neurophysiology, 2010, Vol.121, p.S254-S255

2010

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ATP responses in human C nociceptors

Pain (Amsterdam), 2002-07, Vol.98 (1), p.59-68

2002

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X Chromosome Inactivation in Carriers of Barth Syndrome

American journal of human genetics, 1998-11, Vol.63 (5), p.1457-1463

1998

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Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

American journal of human genetics, 2001-01, Vol.68 (1), p.81-91

2001

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Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: a genetic influence on X chromosome inactivation?

Journal of medical genetics, 1999-11, Vol.36 (11), p.865-866

1999

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Differential sensitization of silent nociceptors to low pH stimulation by prostaglandin E2 in human volunteers

European journal of pain, 2015-02, Vol.19 (2), p.159-166

2015

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Microneurographic assessment of C-fibre function in aged healthy subjects

The Journal of physiology, 2009-01, Vol.587 (2), p.419-428

2009

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High frequency of skewed X inactivation in young breast cancer patients

Journal of medical genetics, 2002-01, Vol.39 (1), p.30-33

2002

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Microneurographic findings of relevance to pain in patients with erythromelalgia and patients with diabetic neuropathy

Neuroscience letters, 2010-02, Vol.470 (3), p.180-184

2010

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P3516Sex differences in cardiac function and muscular dystrophy in lamin A/C genotype positive family members

European heart journal, 2019-10, Vol.40 (Supplement_1)

2019

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Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B

Thrombosis and haemostasis, 2000-03, Vol.83 (3), p.433

2000

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MYOFIBRILLAR AND DISTAL MYOPATHIES

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S107

2018

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Major involvement of trunk muscles in myotonic dystrophy type 1

Pathological C‐fibres in patients with a chronic painful condition

Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

A homeobox gene, HLXB9 , is the major locus for dominantly inherited sacral agenesis

High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer

CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy

Active "itch fibers" in chronic pruritus

S48: Microneurography – a neurophysiological research method for understanding mechanisms important for neuropathic pain

Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

Catecholamine-induced excitation of nociceptors in sympathetically maintained pain

X-linked genetic factors regulate hematopoietic stem-cell kinetics in females

P25-19 Can the clinical presentation of erythromelalgia (EM) differentiate between patients with and without mutations in Nav1.7?

ATP responses in human C nociceptors

X Chromosome Inactivation in Carriers of Barth Syndrome

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: a genetic influence on X chromosome inactivation?

Differential sensitization of silent nociceptors to low pH stimulation by prostaglandin E2 in human volunteers

Microneurographic assessment of C-fibre function in aged healthy subjects

High frequency of skewed X inactivation in young breast cancer patients

Microneurographic findings of relevance to pain in patients with erythromelalgia and patients with diabetic neuropathy

P3516Sex differences in cardiac function and muscular dystrophy in lamin A/C genotype positive family members

Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B

MYOFIBRILLAR AND DISTAL MYOPATHIES

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