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Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

Acta neurologica Scandinavica, 2016-05, Vol.133 (5), p.361-366

2016

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Primary familial brain calcification linked to deletion of 5’ noncoding region of SLC20A2

Acta neurologica Scandinavica, 2017-07, Vol.136 (1), p.59-63

2017

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Decreased bone mineral density and content in neurofibromatosis. type 1: Lowest local values are located in the load-carrying parts of the body

Osteoporosis international, 2005-08, Vol.16 (8), p.928-936

2005

Volltextzugriff (PDF)

The effect of dietary counselling on food intakes in pregnant women at risk for gestational diabetes: a secondary analysis of a randomised controlled trial RADIEL

European journal of clinical nutrition, 2016-08, Vol.70 (8), p.912-917

2016

Volltextzugriff (PDF)

APOE and AGT in the Finnish p.Arg133Cys CADASIL population

Acta neurologica Scandinavica, 2015-12, Vol.132 (6), p.430-434

2015

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A prospective, randomized study of goal-oriented hemodynamic therapy in cardiac surgical patients

Anesthesia and analgesia, 2000-05, Vol.90 (5), p.1052-1059

2000

Volltextzugriff (PDF)

The effect of carbon dioxide, respiratory rate and tidal volume on human heart rate variability

Acta anaesthesiologica Scandinavica, 2004-01, Vol.48 (1), p.93-101

2004

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A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in northern Finland

Journal of medical genetics, 2000-12, Vol.37 (12), p.e43-43

POYHONEN, M

2000

Volltextzugriff (PDF)

Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)

Neurology, 2002-09, Vol.59 (5), p.759

2002

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Cardiorespiratory fitness and health‐related quality of life in women at risk for gestational diabetes

Scandinavian journal of medicine & science in sports, 2018-01, Vol.28 (1), p.203-211

2018

Volltextzugriff (PDF)

Effects of sympatholytic therapy on postmenopausal symptoms in hypertensive postmenopausal women

Climacteric : the journal of the International Menopause Society, 2014-08, Vol.17 (4), p.356-362

2014

Volltextzugriff (PDF)

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Nature medicine, 1998-04, Vol.4 (4), p.452-455

1998

Volltextzugriff (PDF)

Loss of SUFU Function in Familial Multiple Meningioma

American journal of human genetics, 2012-09, Vol.91 (3), p.520-526

2012

Volltextzugriff (PDF)

Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation

Stroke (1970), 2001-08, Vol.32 (8), p.1767-1774

2001

Volltextzugriff (PDF)

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Frontiers in immunology, 2019-12, Vol.10, p.2770-2770

2019

Volltextzugriff (PDF)

Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families

American journal of human genetics, 1998-06, Vol.62 (6), p.1544-1548

1998

Volltextzugriff (PDF)

Experimental studies of mitochondrial function in CADASIL vascular smooth muscle cells

Experimental cell research, 2013-02, Vol.319 (3), p.134-143

2013

Volltextzugriff (PDF)

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.e29-e29

2017

Volltextzugriff (PDF)

Independent NF1 mutations in two large families with spinal neurofibromatosis

Journal of medical genetics, 2003-02, Vol.40 (2), p.122-126

2003

Volltextzugriff (PDF)

Imbalance of the autonomic nervous system at night in women with gestational diabetes

Diabetic medicine, 2010-09, Vol.27 (9), p.988-994

2010

Volltextzugriff (PDF)

Congenital pseudarthrosis of the tibia: Treatment and outcome at skeletal maturity in 10 children

Acta orthopaedica, 1999, Vol.70 (3), p.275-282

1999

Volltextzugriff (PDF)

CADASIL Mutations and shRNA Silencing of NOTCH3 Affect Actin Organization in Cultured Vascular Smooth Muscle Cells

Journal of cerebral blood flow and metabolism, 2012-12, Vol.32 (12), p.2171-2180

2012

Volltextzugriff (PDF)

Hereditary spinal neurofibromatosis: a rare form of NF1?

Journal of medical genetics, 1997-03, Vol.34 (3), p.184-187

1997

Volltextzugriff (PDF)

Arterioles of the lenticular nucleus in CADASIL

Stroke (1970), 2006-09, Vol.37 (9), p.2242-2247

2006

Volltextzugriff (PDF)

Neurologic symptoms are common during gestation and puerperium in CADASIL

Neurology, 2005-04, Vol.64 (8), p.1441

2005

Volltextzugriff (PDF)

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Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

Primary familial brain calcification linked to deletion of 5’ noncoding region of SLC20A2

Decreased bone mineral density and content in neurofibromatosis. type 1: Lowest local values are located in the load-carrying parts of the body

The effect of dietary counselling on food intakes in pregnant women at risk for gestational diabetes: a secondary analysis of a randomised controlled trial RADIEL

APOE and AGT in the Finnish p.Arg133Cys CADASIL population

A prospective, randomized study of goal-oriented hemodynamic therapy in cardiac surgical patients

The effect of carbon dioxide, respiratory rate and tidal volume on human heart rate variability

A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in northern Finland

Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)

Cardiorespiratory fitness and health‐related quality of life in women at risk for gestational diabetes

Effects of sympatholytic therapy on postmenopausal symptoms in hypertensive postmenopausal women

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Loss of SUFU Function in Familial Multiple Meningioma

Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families

Experimental studies of mitochondrial function in CADASIL vascular smooth muscle cells

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1

Independent NF1 mutations in two large families with spinal neurofibromatosis

Imbalance of the autonomic nervous system at night in women with gestational diabetes

Congenital pseudarthrosis of the tibia: Treatment and outcome at skeletal maturity in 10 children

CADASIL Mutations and shRNA Silencing of NOTCH3 Affect Actin Organization in Cultured Vascular Smooth Muscle Cells

Hereditary spinal neurofibromatosis: a rare form of NF1?

Arterioles of the lenticular nucleus in CADASIL

Neurologic symptoms are common during gestation and puerperium in CADASIL

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