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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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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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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 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

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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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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

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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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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

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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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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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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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Fibrosis and Stenosis of the Long Penetrating Cerebral Arteries: the Cause of the White Matter Pathology in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Brain pathology (Zurich, Switzerland), 2004-10, Vol.14 (4), p.358-364

2004

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Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

Nature medicine, 2000-03, Vol.6 (3), p.343-345

2000

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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Genetics in medicine, 2007-10, Vol.9 (10), p.690-694

2007

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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

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

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

CADASIL and CARASIL

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

Molecular genetic and clinical findings in identical twins with CADASIL

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

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

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

Fibrosis and Stenosis of the Long Penetrating Cerebral Arteries: the Cause of the White Matter Pathology in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

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