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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

Volltextzugriff (PDF)

Neuroimaging and neurological outcome of children with acute encephalitis

Developmental medicine and child neurology, 2022-10, Vol.64 (10), p.1262-1269

2022

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2002

Volltextzugriff (PDF)

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

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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)

Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing

Acta dermato-venereologica, 2014-01, Vol.94 (6), p.663-666

2014

Volltextzugriff (PDF)

Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1

Neurology, 2003-11, Vol.61 (10), p.1397

2003

Volltextzugriff (PDF)

CADASIL and CARASIL

Brain pathology (Zurich, Switzerland), 2014-09, Vol.24 (5), p.525-544

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)

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

Brain (London, England : 1878), 2009-04, Vol.132 (4), p.933-939

2009

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)

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)

CADASIL: hereditary disease of arteries causing brain infarcts and dementia

Neuropathology and applied neurobiology, 1999-08, Vol.25 (4), p.257-265

1999

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)

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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

Neuroimaging and neurological outcome of children with acute encephalitis

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

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

Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing

Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1

CADASIL and CARASIL

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

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families

Experimental studies of mitochondrial function in CADASIL vascular smooth muscle cells

Independent NF1 mutations in two large families with spinal neurofibromatosis

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

CADASIL: hereditary disease of arteries causing brain infarcts and dementia

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

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