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A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception

Human molecular genetics, 2004-04, Vol.13 (8), p.799-805

2004

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Identification of the gene responsible for Best macular dystrophy

Nature genetics, 1998-07, Vol.19 (3), p.241-247

1998

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A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)

Human molecular genetics, 2002-05, Vol.11 (9), p.1069-1074

2002

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Disease-causing Mutations in the Cellular Retinaldehyde Binding Protein Tighten and Abolish Ligand Interactions

The Journal of biological chemistry, 2003-04, Vol.278 (14), p.12397-12402

2003

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Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden

European journal of human genetics : EJHG, 2004-03, Vol.12 (3), p.225-237

2004

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Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients

Transplantation, 1995-11, Vol.60 (9), p.933-938

1995

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Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method

Neurobiology of disease, 1995-02, Vol.2 (1), p.55-62

1995

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A New Simple and Rapid Screening Method for Variant Transthyretin-Related Amyloidosis

Biochemical and biophysical research communications, 1996-11, Vol.228 (2), p.480-483

1996

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Ameloblastin Gene (AMBN) Maps within the Critical Region for Autosomal Dominant Amelogenesis Imperfecta at Chromosome 4q21

Genomics (San Diego, Calif.), 1997-04, Vol.41 (1), p.115-118

1997

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Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence

Human heredity, 1993-09, Vol.43 (5), p.288-294

1993

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Detection of different forms of variant transthyretin (Met30) in cerebrospinal fluid

Neuroscience letters, 1997-12, Vol.238 (3), p.123-126

1997

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The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

Human molecular genetics, 1994-10, Vol.3 (10), p.1789-1793

1994

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Coexpression of the sis and myc proto-oncogenes in developing human placenta suggests autocrine control of trophoblast growth

Cell, 1985-05, Vol.41 (1), p.301-312

1985

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Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

European journal of human genetics : EJHG, 2010-02, Vol.18 (2), p.264-264

2010

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Erratum: Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

European journal of human genetics : EJHG, 2010-01, Vol.18 (2), p.264-264

2010

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Expanded CAG Repeats in Swedish Spinocerebellar Ataxia Type 7 (SCA7) Patients: Effect of CAG Repeat Length on the Clinical Manifestation

Human molecular genetics, 1998-02, Vol.7 (2), p.171-176

1998

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Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

European journal of human genetics : EJHG, 2001-12, Vol.9 (12), p.903-909

2001

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Identification of a susceptibility locus for migraine with and without aura on 6p12.2-p21.1

Neurology, 2002-12, Vol.59 (11), p.1804-1807

2002

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Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study

Clinical genetics, 1991-12, Vol.40 (6), p.452-460

1991

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Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO‐93‐AML trial between 1993 and 2001

British journal of haematology, 2003-05, Vol.121 (4), p.566-577

2003

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Gene therapy: Lessons learned from liver transplantation for transthyretin‐amyloidosis

Liver transplantation, 2004-12, Vol.10 (12), p.1551-1553

2004

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Association of C3 and C4 A Complement Types with Familial Amyloidotic Polyneuropathy

Human heredity, 2008-09, Vol.40 (5), p.272-277

2008

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Flow cytometric DNA index and karyotype in childhood lymphoblastic leukemia

Analytical cellular pathology, 1998, Vol.17 (3), p.145-156

1998

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Bothnia dystrophy caused by mutations in the cellular retinaldehyde- binding protein gene (RLBP1) on chromosome 15q26

Investigative ophthalmology & visual science, 1999-04, Vol.40 (5), p.995-1000

1999

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Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome

Journal of medical genetics, 2005-12, Vol.42 (12), p.953-956

2005

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A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception

Identification of the gene responsible for Best macular dystrophy

A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)

Disease-causing Mutations in the Cellular Retinaldehyde Binding Protein Tighten and Abolish Ligand Interactions

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden

Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients

Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method

A New Simple and Rapid Screening Method for Variant Transthyretin-Related Amyloidosis

Ameloblastin Gene (AMBN) Maps within the Critical Region for Autosomal Dominant Amelogenesis Imperfecta at Chromosome 4q21

Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence

Detection of different forms of variant transthyretin (Met30) in cerebrospinal fluid

The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

Coexpression of the sis and myc proto-oncogenes in developing human placenta suggests autocrine control of trophoblast growth

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

Erratum: Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

Expanded CAG Repeats in Swedish Spinocerebellar Ataxia Type 7 (SCA7) Patients: Effect of CAG Repeat Length on the Clinical Manifestation

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

Identification of a susceptibility locus for migraine with and without aura on 6p12.2-p21.1

Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study

Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO‐93‐AML trial between 1993 and 2001

Gene therapy: Lessons learned from liver transplantation for transthyretin‐amyloidosis

Association of C3 and C4 A Complement Types with Familial Amyloidotic Polyneuropathy

Flow cytometric DNA index and karyotype in childhood lymphoblastic leukemia

Bothnia dystrophy caused by mutations in the cellular retinaldehyde- binding protein gene (RLBP1) on chromosome 15q26

Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome

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