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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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Neuroimaging and neurological outcome of children with acute encephalitis

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

2022

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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

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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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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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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

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CADASIL and CARASIL

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

2014

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Molecular genetic and clinical findings in identical twins with CADASIL

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, Vol.283 (1), p.294-294

2009

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Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

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

2019

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Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

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

2009

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Genetic factors modify the clinical course of CADASIL

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, Vol.283 (1), p.294-294

2009

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Correspondence between the molecular genetic analysis and electron microscopic detection of granular osmiophilic material in CADASIL

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, Vol.283 (1), p.293-294

2009

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Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families

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

1998

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On the convergence of multiattribute weighting methods

European journal of operational research, 2001-03, Vol.129 (3), p.569-585

2001

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Insulin resistance without coexisting hyperglycaemia is not independently associated with cardiorespiratory fitness or its components in women

European heart journal, 2023-11, Vol.44 (Supplement_2)

2023

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Experimental studies of mitochondrial function in CADASIL vascular smooth muscle cells

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

2013

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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

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Independent NF1 mutations in two large families with spinal neurofibromatosis

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

2003

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0710: Surveillance of Women at High Risk of Gynecological Cancers: 10 Year Results From One Center

International journal of gynecological cancer, 2006-10, Vol.16 (Suppl 3), p.799-799

2006

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

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

2010

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CADASIL: hereditary disease of arteries causing brain infarcts and dementia

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

1999

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

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

1999

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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

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Neurologic symptoms are common during gestation and puerperium in CADASIL

Neurology, 2005-04, Vol.64 (8), p.1441-1443

2005

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Different Clinical Phenotypes in Monozygotic CADASIL Twins With a Novel NOTCH3 Mutation

Stroke (1970), 2009-06, Vol.40 (6), p.2215-2218

2009

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

Neuroimaging and neurological outcome of children with acute encephalitis

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

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

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

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

CADASIL and CARASIL

Molecular genetic and clinical findings in identical twins with CADASIL

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

Genetic factors modify the clinical course of CADASIL

Correspondence between the molecular genetic analysis and electron microscopic detection of granular osmiophilic material in CADASIL

Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families

On the convergence of multiattribute weighting methods

Insulin resistance without coexisting hyperglycaemia is not independently associated with cardiorespiratory fitness or its components in women

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

0710: Surveillance of Women at High Risk of Gynecological Cancers: 10 Year Results From One Center

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

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

Neurologic symptoms are common during gestation and puerperium in CADASIL

Different Clinical Phenotypes in Monozygotic CADASIL Twins With a Novel NOTCH3 Mutation

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