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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

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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

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

Neurology, 2002-09, Vol.59 (5), p.759-761

2002

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

Neurology, 2003-11, Vol.61 (10), p.1397-1400

2003

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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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Loss of SUFU Function in Familial Multiple Meningioma

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

2012

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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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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

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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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Arterioles of the lenticular nucleus in CADASIL

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

2006

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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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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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Insidious cognitive decline in CADASIL

Stroke (1970), 2004-07, Vol.35 (7), p.1598-1602

2004

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Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

Journal of clinical oncology, 2005-07, Vol.23 (21), p.4609-4616

2005

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New Function for NF1 Tumor Suppressor

Journal of investigative dermatology, 2000-03, Vol.114 (3), p.473-479

2000

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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

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

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

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

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

Molecular genetic and clinical findings in identical twins with CADASIL

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

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

Arterioles of the lenticular nucleus in CADASIL

Neurologic symptoms are common during gestation and puerperium in CADASIL

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

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

Insidious cognitive decline in CADASIL

Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

New Function for NF1 Tumor Suppressor

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