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G.P.277

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.900-900

2014

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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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P.8.1 Muscle biopsy findings in Limb Girdle muscle Dystrophy 2I (LGMD2I)

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.779-780

2013

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Mutations in anoctamin 5 in limb girdle muscular dystrophy in Norway: Phenotypic variability and mutation spectrum

Journal of the neurological sciences, 2013-10, Vol.333, p.e444-e444

2013

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A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

Brain (London, England : 1878), 2016-08, Vol.139 (Pt 8), p.2154-2163

2016

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Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level

International journal of molecular medicine, 2008-02, Vol.21 (2), p.189-200

2008

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MOTOR NEURON DISORDERS AND NEUROPATHIES: EP.246 Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S123-S124

2021

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MOTOR NEURON DISORDERS AND NEUROPATHIES

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S123-S124

2021

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P3.43 An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.695-695

2011

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P2.19 Norwegian patients with Limb Girdle Muscular Dystrophy 2I structural changes and immunhistochemistry related to clinical findings and genotype–fenotype

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.666-666

2011

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COLLAGEN RELATED MUSCLE DISEASES

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S66

2021

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COLLAGEN RELATED MUSCLE DISEASES: EP.56 Collagen VI-related neuropathy

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S66-S66

2021

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EM.P.2.09 Spectrum of mutations and phenotypic variability in FKRP-related disease in Norway

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.554-554

2009

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MYOFIBRILLAR AND DISTAL MYOPATHIES

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

2018

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MYOFIBRILLAR AND DISTAL MYOPATHIES: P.249A novel mutation in MYH7 giving rise to different phenotypes in a mother and her daughter

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

2018

Volltextzugriff (PDF)

EP.98Next-generation sequencing-based molecular diagnosis of neuromuscular patients: results of three years experience

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S181-S181

2019

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CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S51

2018

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CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA: P.71Unexpected findings of congenital myasthenic syndromes by NGS testing using an extended gene panel on neuromuscular patients in Norway

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S51-S51

2018

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Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

Journal of medical genetics, 2010-09, Vol.47 (9), p.579-585

2010

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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

American journal of human genetics, 2003-02, Vol.72 (2), p.478-487

2003

Volltextzugriff (PDF)

G.P.277: LGMD2I: Is there a relationship between clinical phenotype, morphological alterations and level of alpha-dystroglycan glycosylation in patients with the same FKRP genotype?

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.900-900

2014

Volltextzugriff (PDF)

G.P.160 - 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

Volltextzugriff (PDF)

P.P.4 08 Pediatric patients homozygous for the c.826C > A missense mutation in the FKRP gene: Experience from a Norwegian pediatric service

Neuromuscular disorders : NMD, 2006-10, Vol.16 (9), p.680-680

2006

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Screening for germline rearrangements in BRCA1 and BRCA2 in Norwegian families with breast or breast/ovarian cancer

Breast cancer research : BCR, 2005, Vol.7 Suppl 2 (Suppl 2), p.P1-P1

2005

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Prenatal diagnosis of fetal hydrops associated with Down's syndrome in a 40‐year‐old woman with a mosaic Turner's karyotype (45,X/47,XXX)

Acta obstetricia et gynecologica Scandinavica, 2003-08, Vol.82 (8), p.773-774

2003

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G.P.277

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

P.8.1 Muscle biopsy findings in Limb Girdle muscle Dystrophy 2I (LGMD2I)

Mutations in anoctamin 5 in limb girdle muscular dystrophy in Norway: Phenotypic variability and mutation spectrum

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level

MOTOR NEURON DISORDERS AND NEUROPATHIES: EP.246 Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene

MOTOR NEURON DISORDERS AND NEUROPATHIES

P3.43 An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

P2.19 Norwegian patients with Limb Girdle Muscular Dystrophy 2I structural changes and immunhistochemistry related to clinical findings and genotype–fenotype

COLLAGEN RELATED MUSCLE DISEASES

COLLAGEN RELATED MUSCLE DISEASES: EP.56 Collagen VI-related neuropathy

EM.P.2.09 Spectrum of mutations and phenotypic variability in FKRP-related disease in Norway

MYOFIBRILLAR AND DISTAL MYOPATHIES

MYOFIBRILLAR AND DISTAL MYOPATHIES: P.249A novel mutation in MYH7 giving rise to different phenotypes in a mother and her daughter

EP.98Next-generation sequencing-based molecular diagnosis of neuromuscular patients: results of three years experience

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA: P.71Unexpected findings of congenital myasthenic syndromes by NGS testing using an extended gene panel on neuromuscular patients in Norway

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

G.P.277: LGMD2I: Is there a relationship between clinical phenotype, morphological alterations and level of alpha-dystroglycan glycosylation in patients with the same FKRP genotype?

G.P.160 - CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy

P.P.4 08 Pediatric patients homozygous for the c.826C > A missense mutation in the FKRP gene: Experience from a Norwegian pediatric service

Screening for germline rearrangements in BRCA1 and BRCA2 in Norwegian families with breast or breast/ovarian cancer

Prenatal diagnosis of fetal hydrops associated with Down's syndrome in a 40‐year‐old woman with a mosaic Turner's karyotype (45,X/47,XXX)

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