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Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

Clinical genetics, 2011-12, Vol.80 (6), p.574-580

2011

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Socio-demographic Characteristics of Suicides in the Nenets Autonomous Okrug, Northwestern Russia

European psychiatry, 2015-03, Vol.30, p.949-949

2015

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Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.1015-1024

2013

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Lactococcin A, a new bacteriocin from Lactococcus lactis subsp. cremoris: isolation and characterization of the protein and its gene

Journal of Bacteriology, 1991-06, Vol.173 (12), p.3879-3887

1991

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MUSCLE HOMEOSTASIS: P.125Protein homeostasis in LGMD2I

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S85-S85

2019

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MUSCLE HOMEOSTASIS

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S85

2019

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Spectrum of Mutations in α-Mannosidosis

American journal of human genetics, 1999, Vol.64 (1), p.77-88

1999

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Analysis and comparison of the 4b core protein gene of avipoxviruses from wild birds: Evidence for interspecies spatial phylogenetic variation

Archives of virology, 2004-10, Vol.149 (10), p.2035-2046

2004

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G.P.277

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

2014

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P.36 - Limb girdle muscular dystrophy type 2I: Lack of correlation between clinical severity, histopathological alterations and levels of glycosylated α-dystroglycan in patients homozygous for the common FKRP mutation

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S109-S109

2017

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Limb girdle muscular dystrophy type 2I: Lack of correlation between clinical severity, histopathological alterations and levels of glycosylated α-dystroglycan in patients homozygous for the common FKRP mutation

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S109

2017

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LONG-TERM EFFECT OF BRIEF INTERVENTION IN AT-RISK ALCOHOL DRINKERS: A 9-YEAR FOLLOW-UP STUDY

Alcohol and alcoholism (Oxford), 2004-11, Vol.39 (6), p.548-551

Nilssen, Odd

2004

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Premature cardiovascular mortality and alcohol consumption before death in Arkhangelsk, Russia: an analysis of a consecutive series of forensic autopsies

International journal of epidemiology, 2011-12, Vol.40 (6), p.1519-1529

2011

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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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Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease

Journal of medical genetics, 2002-09, Vol.39 (9), p.e55-55

2002

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P2.17 Fukutin-related protein resides in the Golgi cisternae of human skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction interface

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.665-666

2011

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Modified vaccinia virus Ankara multiplies in rat IEC-6 cells and limited production of mature virions occurs in other mammalian cell lines

Journal of general virology, 2006-01, Vol.87 (1), p.21-27

2006

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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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Alcohol consumption and its relation to risk factors for cardiovascular disease in the north-west of Russia: the Arkhangelsk study

International journal of epidemiology, 2005-08, Vol.34 (4), p.781-788

2005

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Human cytomegalovirus (HCMV) and hearing impairment: Infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49—Both involved in dominantly inherited, sensorineural, hearing impairment

Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis, 2008-01, Vol.637 (1), p.56-65

2008

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Genomic Structure of the Human Lysosomal α-Mannosidase Gene (MANB)

Genomics (San Diego, Calif.), 1997-06, Vol.42 (2), p.200-207

1997

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MOTOR NEURON DISORDERS AND NEUROPATHIES

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

2021

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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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CARBOHYDRATE-DEFICIENT TRANSFERRIN: MARKER OF ACTUAL ALCOHOL CONSUMPTION OR CHRONIC ALCOHOL MISUSE?

Alcohol and alcoholism (Oxford), 1998-11, Vol.33 (6), p.646-650

1998

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A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation

American journal of human genetics, 2001-07, Vol.69 (1), p.228-234

2001

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Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

Socio-demographic Characteristics of Suicides in the Nenets Autonomous Okrug, Northwestern Russia

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

Lactococcin A, a new bacteriocin from Lactococcus lactis subsp. cremoris: isolation and characterization of the protein and its gene

MUSCLE HOMEOSTASIS: P.125Protein homeostasis in LGMD2I

MUSCLE HOMEOSTASIS

Spectrum of Mutations in α-Mannosidosis

Analysis and comparison of the 4b core protein gene of avipoxviruses from wild birds: Evidence for interspecies spatial phylogenetic variation

G.P.277

P.36 - Limb girdle muscular dystrophy type 2I: Lack of correlation between clinical severity, histopathological alterations and levels of glycosylated α-dystroglycan in patients homozygous for the common FKRP mutation

Limb girdle muscular dystrophy type 2I: Lack of correlation between clinical severity, histopathological alterations and levels of glycosylated α-dystroglycan in patients homozygous for the common FKRP mutation

LONG-TERM EFFECT OF BRIEF INTERVENTION IN AT-RISK ALCOHOL DRINKERS: A 9-YEAR FOLLOW-UP STUDY

Premature cardiovascular mortality and alcohol consumption before death in Arkhangelsk, Russia: an analysis of a consecutive series of forensic autopsies

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

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease

P2.17 Fukutin-related protein resides in the Golgi cisternae of human skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction interface

Modified vaccinia virus Ankara multiplies in rat IEC-6 cells and limited production of mature virions occurs in other mammalian cell lines

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

Alcohol consumption and its relation to risk factors for cardiovascular disease in the north-west of Russia: the Arkhangelsk study

Human cytomegalovirus (HCMV) and hearing impairment: Infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49—Both involved in dominantly inherited, sensorineural, hearing impairment

Genomic Structure of the Human Lysosomal α-Mannosidase Gene (MANB)

MOTOR NEURON DISORDERS AND NEUROPATHIES

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

CARBOHYDRATE-DEFICIENT TRANSFERRIN: MARKER OF ACTUAL ALCOHOL CONSUMPTION OR CHRONIC ALCOHOL MISUSE?

A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation

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