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The x-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30-->Met variant to 1.7-A resolution

The Journal of biological chemistry, 1993-02, Vol.268 (4), p.2416-2424

1993

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‘It depends on who I'm with’: How young people with developmental language disorder describe their experiences of language and communication in school

International journal of language & communication disorders, 2023-07, Vol.58 (4), p.1168-1181

2023

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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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Using a word association task to investigate semantic depth in swedish-speaking children with developmental language disorder

Logopedics, phoniatrics, vocology, 2021, Vol.46 (3), p.134-140

2021

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Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement

Survey of ophthalmology, 1995-11, Vol.40 (3), p.173-196

SANDGREN, O

1995

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X-ray Structures of the Maltose–Maltodextrin-binding Protein of the Thermoacidophilic Bacterium Alicyclobacillus acidocaldarius Provide Insight into Acid Stability of Proteins

Journal of molecular biology, 2004-01, Vol.335 (1), p.261-274

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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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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Modifications of transthyretin in amyloid fibrils: analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation

The EMBO journal, 1993-02, Vol.12 (2), p.743-748

1993

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Characterization of Two Highly Amyloidogenic Mutants of Transthyretin

Biochemistry (Easton), 1997-05, Vol.36 (18), p.5346-5352

1997

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Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis

Journal of medical genetics, 1993-05, Vol.30 (5), p.388-392

1993

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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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Primary localized amyloidosis of the eyelid: two cases of immunoglobulin light chain‐derived proteins, subtype λV respectively λVI

Clinical and experimental immunology, 1996-11, Vol.106 (2), p.362-366

1996

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Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

Ophthalmic genetics, 2000-12, Vol.21 (4), p.197-209

2000

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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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Ocular phenotype of CORD5, an autosomal dominant cone‐rod dystrophy associated with a Q626H mutation in the PITPNM3

Acta ophthalmologica (Oxford, England), 2008-09, Vol.86 (s243), p.0-0

2008

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Summary of the findings of the RLBP1 mutations affecting the visual cycle known so far with extremely prolonged dark adaptation in the RP of Bothnia type

Acta ophthalmologica (Oxford, England), 2008-09, Vol.86 (s243), p.0-0

2008

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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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Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene

Archives of ophthalmology (1960), 2001-02, Vol.119 (2), p.260

2001

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Retinal function in Bothnia dystrophy. An electrophysiological study

Vision research (Oxford), 2003-11, Vol.43 (24), p.2559-2571

2003

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PITPNM3 is an uncommon cause of cone and cone-rod dystrophies

Ophthalmic genetics, 2010-09, Vol.31 (3), p.139-140

2010

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The mutation spectrum of the bestrophin protein : functional implications

Human genetics, 1999-05, Vol.104 (5), p.383-389

1999

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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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Ocular Amyloidosis, With Special Reference to the Hereditary Forms With Vitreous Involvement

Journal of neuro-ophthalmology, 1996-12, Vol.16 (4), p.299

O, Sandgren

1996

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Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1

Human molecular genetics, 1995-08, Vol.4 (8), p.1441-1445

1995

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The x-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30-->Met variant to 1.7-A resolution

‘It depends on who I'm with’: How young people with developmental language disorder describe their experiences of language and communication in school

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

Using a word association task to investigate semantic depth in swedish-speaking children with developmental language disorder

Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement

X-ray Structures of the Maltose–Maltodextrin-binding Protein of the Thermoacidophilic Bacterium Alicyclobacillus acidocaldarius Provide Insight into Acid Stability of Proteins

Identification of the gene responsible for Best macular dystrophy

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

Modifications of transthyretin in amyloid fibrils: analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation

Characterization of Two Highly Amyloidogenic Mutants of Transthyretin

Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis

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

Primary localized amyloidosis of the eyelid: two cases of immunoglobulin light chain‐derived proteins, subtype λV respectively λVI

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

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

Ocular phenotype of CORD5, an autosomal dominant cone‐rod dystrophy associated with a Q626H mutation in the PITPNM3

Summary of the findings of the RLBP1 mutations affecting the visual cycle known so far with extremely prolonged dark adaptation in the RP of Bothnia type

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

Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene

Retinal function in Bothnia dystrophy. An electrophysiological study

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies

The mutation spectrum of the bestrophin protein : functional implications

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

Ocular Amyloidosis, With Special Reference to the Hereditary Forms With Vitreous Involvement

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1

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