G. Holmgren

Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome
200531 citationsauthor #1
A Swedish family with the rare Phe33Leu transthyretin mutation
200511 citationsauthor #1
A first case of liver rupture in transthyretin (TTR) familial amyloid polyneuropathy
20054 citationsauthor #7
Heart Transplantation in a 68‐Year‐Old Patient with Senile Systemic Amyloidosis
200530 citationsauthor #4
Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants
200519 citationsauthor #1
Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins
200439 citationsauthor #1
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
2004296 citationsauthor #7
Successful pregnancies and fatherhood in familial amyloidotic polyneuropathy (FAP Val30Met) patients with liver transplantation
20043 citationsauthor #1
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype–phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden
200470 citationsauthor #4
Gene therapy: Lessons learned from liver transplantation for transthyretin‐amyloidosis
20041 citationsauthor #2
Fracture patterns in malignant osteopetrosis (Albers-Schönberg disease)
200428 citationsauthor #2
The CTLA4 region as a general autoimmunity factor: An extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease
200370 citationsauthor #8
Disease-causing Mutations in the Cellular Retinaldehyde Binding Protein Tighten and Abolish Ligand Interactions* 210
200369 citationsauthor #10
Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO‐93‐AML trial between 1993 and 2001
200372 citationsauthor #5
Hereditary transthyretin amyloidosis from a Scandinavian perspective
2003109 citationsauthor #5
Identification of a susceptibility locus for migraine with and without aura on 6p12.2-p21.1
2002100 citationsauthor #6
Co-existence of pseudo-Chediak–Higashi anomaly and double minutes containing C-MYC oncogene in three patients with AML M2
200210 citationsauthor #5
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).
2002141 citationsauthor #3
Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping
200120 citationsauthor #4
Scavenger treatment of free radical injury in familial amyloidotic polyneuropathy: a study on Swedish transplanted and non-transplanted patients.
200115 citationsauthor #7
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia
200171 citationsauthor #4
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia
200131 citationsauthor #4
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
200030 citationsauthor #8
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia
200040 citationsauthor #11
Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser
200022 citationsauthor #3
Enhancement of AA-amyloid formation in mice by transthyretin amyloid fragments and polyethylene glycol.
200013 citationsauthor #4
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia
200066 citationsauthor #9
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
200069 citationsauthor #15
Variant transthyretin (TTR) amyloidosis in Argentina. Detection of the trait by electrospray ionization mass spectrometry of lyophilized TTR immunoprecipitate.
19995 citationsauthor #10
Gastrointestinal dysfunction in familial amyloidotic polyneuropathy (ATTR Val30Met)--comparison of Swedish and Japanese patients.
199929 citationsauthor #4
[Growing genes cause neurological diseases].
19990 citationsauthor #2
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
1999139 citationsauthor #3
Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplantation
19981 citationsauthor #2
Detection of a variant protein in hair: new diagnostic method in Portuguese type familial amyloid polyneuropathy.
19986 citationsauthor #4
Liver transplantation in familial amyloidotic polyneuropathy (FAP). A comparative study of transplanted and non-transplanted patient's survival
199811 citationsauthor #3
Liver transplantation in familial amyloidotic polyneuropathy (FAP). A comparative study of transplanted and non‐transplanted patient's survival
199814 citationsauthor #3
Identification of the gene responsible for Best macular dystrophy
1998706 citationsauthor #9
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation.
1998172 citationsauthor #5
Flow Cytometric DNA Index and Karyotype in Childhood Lymphoblastic Leukemia
199815 citationsauthor #2
Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids
199717 citationsauthor #5
PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
199745 citationsauthor #4
Oxidative stress is found in amyloid deposits in systemic amyloidosis.
1997138 citationsauthor #4
First prenatal diagnosis by mutation analysis in a family with Sjögren–Larsson syndrome
199722 citationsauthor #2
Rapid screening for amyloid‐related variant forms of transthyretin is possible by electrospray ionization mass spectrometry
199717 citationsauthor #4
Discordant symptoms in monozygotic twins with familial amyloidotic polyneuropathy (FAP) (TTR Met 30)
199728 citationsauthor #1
Angioid streaks are part of a familial syndrome of dyserythropoietic anaemia (CDA III)
199735 citationsauthor #4
Detection of different forms of variant transthyretin (Met30) in cerebrospinal fluid.
199729 citationsauthor #6
4-48-08 Familial amyloid neuropathy (FAP-type I) in Portugal and Sweden: A more variable disease than the one first described
19970 citationsauthor #9
Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1.
199625 citationsauthor #8
Transthyretin Ser6 as a neutral polymorphism in familial amyloidotic polyneuropathy
19969 citationsauthor #4
Clinical Features, Diagnosis and Treatment of Familial Amyloid Polyneuropathy
19960 citationsauthor #6
Compound heterozygoty in patients with TTR-related amyloidosis
19963 citationsauthor #5
An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
1996110 citationsauthor #12
Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study
1996454 citationsauthor #29
Impact of liver transplantation on survival in familial amyloidotic polyneuropathy
19960 citationsauthor #2
Glycerol kinase deficiency in two brothers with and without clinical manifestations
199616 citationsauthor #6
L-threo-DOPS treatment of orthostatic hypotension in Swedish patients with familial amyloidotic polyneuropathy (TTR-met30)
19964 citationsauthor #4
FAP Met 30 in Sweden.-epidemiological, biochemical, clinical and therapeutical studies-a survey
19960 citationsauthor #1
A new simple and rapid screening method for variant transthyretin-related amyloidosis.
199664 citationsauthor #6
Factors affecting outcome of liver transplantation in familial amyloidotic polyneuropathy
19960 citationsauthor #2
Occupational and Other Risk Factors for Clinically Overt Familial Amyloid Polyneuropathy
199515 citationsauthor #2
Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25.
199569 citationsauthor #7
[Gene identification for Huntington's disease. Direkt mutational analysis confirms the diagnosis].
19950 citationsauthor #5
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.
199578 citationsauthor #6
Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method.
1995137 citationsauthor #7
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.
199527 citationsauthor #3
Liver transplantation halts the progress of familial amyloidotic polyneuropathy.
199525 citationsauthor #4
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13.
199571 citationsauthor #5
Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection method
19955 citationsauthor #7
Difficulties in clinical diagnosis and prediction of outcome in patients with the transthyretin Met 30 mutation: Report of two cases
19956 citationsauthor #2
Apolipoprotein E4 genotype is not a risk factor for systemic AA amyloidosis or familial amyloid polyneuropathy
199512 citationsauthor #5
LIVER TRANSPLANTATION IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY FOLLOW‐UP OF THE FIRST 20 SWEDISH PATIENTS
1995181 citationsauthor #2
Outcome of pregnancy in women with myotonic dystrophy and analysis of CTG gene expansion
199519 citationsauthor #4
Haplotype analysis of common transthyretin mutations
199519 citationsauthor #4
Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy
1994213 citationsauthor #3
Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci.
199433 citationsauthor #9
Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.
1994165 citationsauthor #1
Distributions of phenylalanine hydroxylase mutations and haplotypes in Lithuanian phenylketonuria patients.
19945 citationsauthor #4
Strong Founder Effect for the Fragile X Syndrome in Sweden
199429 citationsauthor #4
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
199450 citationsauthor #4
World-wide survey of liver transplantation in patients with familial amyloidotic polyneuropathy
199448 citationsauthor #2
Modifications of transthyretin in amyloid fibrils: analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation.
199393 citationsauthor #5
Early onset dystonia decreasing with development. Case report of two children with familial myoclonic dystonia.
19932 citationsauthor #4
Striatal [11C]-N-methyl-spiperone binding in patients with focal dystonia (torticollis) using positron emission tomography
199316 citationsauthor #4
Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis.
1993559 citationsauthor #1
Silver‐like syndrome and a small deletion on chromosome 13
19937 citationsauthor #2
Some patterns of age-of-onset variation in Swedish FAP families
19930 citationsauthor #4
A prevalence study of FAP in Northern Sweden
19931 citationsauthor #4
The X-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30→Met variant to 1.7-Å resolution
1993175 citationsauthor #6
REGRESSION OF AMYLOIDOSIS DEMONSTRATED BY SAP SCINTIGRAPHY
19930 citationsauthor #6
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
199393 citationsauthor #5
Diagnostic radioimmunoassay and DNA‐analysis in Swedish and Japanese patients with familial amyloidotic polyneuropathy. Homozygosity for the TTR met30 gene
199315 citationsauthor #1
Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence.
1993155 citationsauthor #4
17. SAP scintigraphy and turnover studies demonstrate regression of amyloidosis
19936 citationsauthor #6
[Huntington's disease. The elusive "gene" is now identified].
19930 citationsauthor #2
Attitudes of rural people in central Ethiopia towards leprosy and a brief comparison with observations on epilepsy.
199236 citationsauthor #5
Alteration in molecular structure which results in disease: the Met-30 variant of human plasma transthyretin.
199228 citationsauthor #5
The first case of familial amyloidotic polyneuropathy (FAP Met30) in the Finnish population.
19924 citationsauthor #2
Homozygosity for the transthyretin‐Met30‐gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences
199245 citationsauthor #1
METHYLATION AND MUTATION PATTERNS IN THE FRAGILE X SYNDROME
199234 citationsauthor #5

PROFILE

PAPERS

TIMELINE

COAUTHOR MAP

CONCEPT FOOTPRINT