Citation Impact
Citing Papers
Primary Structure of Glycoprotein Glycans Basis for the Molecular Biology of Glycoproteins
1980
The fragile X syndrome.
1998
Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome
1993
The Empathy Quotient: An Investigation of Adults with Asperger Syndrome or High Functioning Autism, and Normal Sex Differences
2004 Standout
Prevalence of fragile X syndrome
1996
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland
1992
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Niemann-Pick disease type C
2010 Standout
The Neurobiology and Genetics of Infantile Autism
1993
Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome
1998 Standout
Prevalence of Lysosomal Storage Disorders
1999 Standout
Attachment of oligosaccharides to peptide antigen profoundly affects binding to major histocompatibility complex class II molecules and peptide immunogenicity
1994 StandoutNobel
A retrospective study of long‐term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria
2000
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
2004 Standout
Clustering of Recurrent Pericarditis With Effusion and Constriction in a Family
2002
Characterizing glycosylation pathways.
2001 StandoutNobel
A general approach to the synthesis ofO- andN-linked glycopeptides
1994 StandoutNobel
Enzyme Replacement Therapy in Fabry Disease
2001 Standout
The Autism-Spectrum Quotient (AQ): Evidence from Asperger Syndrome/High-Functioning Autism, Males and Females, Scientists and Mathematicians
2001 Standout
Biological roles of glycans
2016 Standout
Executive Functions and Developmental Psychopathology
1996 Standout
Free oligosaccharide regulation during mammalian protein N-glycosylation
2007
Cleft lip and palate
2009 Standout
Autism: Towards an Integration of Clinical, Genetic, Neuropsychological, and Neurobiological Perspectives
1996 Standout
Metabolic Delivery of Ketone Groups to Sialic Acid Residues
1998 StandoutNobel
Catabolism of N-glycoproteins in mammalian cells: Molecular mechanisms and genetic disorders related to the processes
2016
DNA Methylation and Its Basic Function
2012 Standout
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
2015 Standout
Mutations in the Human UDP-N-Acetylglucosamine 2-Epimerase Gene Define the Disease Sialuria and the Allosteric Site of the Enzyme
1999
Oligosaccharide transport: pumping waste from the ER into lysosomes
1999
Uncomplicated Urinary Tract Infection
2012 Standout
Genetic Factors in Child Psychiatric Disorders—II. Empirical Findings
1990
Intervening with Urinary Tract Infections Using Anti-Adhesives Based on the Crystal Structure of the FimH–Oligomannose-3 Complex
2008
Evidence for non‐lysosomal storage of N‐acetylneuraminic acid (sialic acid) in sialuria fibroblasts
1989
Metabolic selection of glycosylation defects in human cells
2001 StandoutNobel
Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients
1990 Standout
Autism as a strongly genetic disorder: evidence from a British twin study
1995 Standout
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients
1998
Protein Sequence Editing of SKN-1A/Nrf1 by Peptide:N-Glycanase Controls Proteasome Gene Expression
2019 StandoutNobel
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells.
1995 StandoutNobel
Silyl protection in the solid-phase synthesis of N-linked neoglycopeptides. One-step deprotection of fully protected neoglycopeptides.
1993 StandoutNobel
Applications of the Morris water maze in the study of learning and memory
2001 Standout
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
1991
The synthesis of 2-azido C-glycosyl sugars
1992 StandoutNobel
Glycosylation of phenols: preparation of 1,2-cis and 1,2-trans glycosylated tyrosine derivatives to be used in solid-phase glycopeptide synthesis
1993 StandoutNobel
Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.
1996 StandoutNobel
Solid-phase glycopeptide synthesis of tyrosine-glycosylated glycogenin fragments as substrates for glucosylation by glycogenin
1996 StandoutNobel
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
1994
Guidelines on the Diagnosis and Management of Pericardial Diseases Executive SummaryThe Task Force on the Diagnosis and Management of Pericardial Diseases of the European Society of Cardiology
2004 Standout
Control of glycoprotein synthesis. Lectin-resistant mutant containing only one of two distinct N-acetylglucosaminyltransferase activities present in wild type Chinese hamster ovary cells.
1977
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
Aggregation-Induced Emission: Together We Shine, United We Soar!
2015 Standout
Genes and languages in Europe: an analysis of mitochondrial lineages.
1995 StandoutNobel
Genetic Influences in Autism
1990
Synthesis of β-C-Glycosides of N-Acetylglucosamine via Keck Allylation Directed by Neighboring Phthalimide Groups
1996 StandoutNobel
Versatile solid-phase thiolytic reduction of azido and N-Dts groups in the synthesis of haemoglobin (67–76) O-glycopeptides and photoaffinity labelled analogues to study glycan T-cell specificity
1997 StandoutNobel
Hypersialyloligosacchariduria in mucolipidoses: A method for diagnosis
1978
[4] Transport-coupled oligosaccharide processing in a cell-free system
1983 StandoutNobel
Synthesis of the building blocks Nα-Fmoc-O-[α-D -Ac3GalN3p-(1→3)-α-D -Ac2GalN3p]-Thr-OPfp and Nα-Fmoc-O-[α-D -Ac3GalN3p-(1→6)-α-D -Ac2GalN3p]-Thr-OPfp and their application in the solid phase glycopeptide synthesis of core 5 and core 7 mucin O-glycopeptides
1995 StandoutNobel
Sialic acid metabolism in sialuria fibroblasts.
1991
Multiple column solid phase glycopeptide synthesis
1991 StandoutNobel
Effect of isomers of swainsonine on glycosidase activity and glycoprotein processing
1987 StandoutNobel
Eine neue Strategie zur Festphasensynthese von O‐Glycopeptiden
1992 StandoutNobel
Carbohydrate structure of vesicular stomatitis virus glycoprotein
1978
Morphological, Biochemical and Molecular Biology Approaches for the Diagnosis of Lysosomal Storage Diseases
2000
Transient activity of Golgi-like membranes as donors of vesicular stomatitis viral glycoprotein in vitro.
1981 StandoutNobel
Protected-mode synthesis of N-linked glycopeptides: single-step preparation of building blocks as peracetyl glycosylated NαFmoc asparagine OPfp esters
1993 StandoutNobel
Maternal drug histories and congenital malformations: limb reduction defects and oral clefts.
1988
Isolation of glucose-containing high-mannose glycoprotein core oligosaccharides.
1984 StandoutNobel
Autoimmune polyendocrinopathy – candidosis – ectodermal dystrophy (APECED): autosomal recessive inheritance
1985
The catabolism of mammalian glycoproteins. Comparison of the storage products in bovine, feline and human mannosidosis
1983
Solid-phase synthesis and characterization of O-dimannosylated heptadecapeptide analogues of human insulin-like growth factor 1 (IGF-1)
1992 StandoutNobel
A New Strategy for Solid‐Phase Synthesis of O‐Glycopeptides
1992 StandoutNobel
Linkage and sequence analysis of mannose-rich glycoprotein core oligosaccharides by proton nuclear magnetic resonance spectroscopy
1980
Solid phase peptide synthesis of mucin glycopeptides
1992 StandoutNobel
Autismo e doenças invasivas de desenvolvimento
2004 Standout
Works of S. Autio being referenced
Epileptic seizures in aspartylglucosaminuria: a common disorder
2009
Early clinical symptoms and incidence of aspartylglucosaminuria in Finland
1993
CULTURED SKIN FIBROBLASTS IN DISORDERS OF GLYCOPROTEIN CATABOLISM AND I‐CELL DISEASE
1974
MULIBREY NANISM v. HEREDITARY CONGENITAL DWARFISM WITH PERICARDIAL CONSTRICTION
1973
A Mannose-containing Trisaccharide Isolated from Urines of Three Patients with Mannosidosis
1973
Prevalence of the fragile X syndrome in four birth cohorts of children of school age
1987
Abnormal collagen fibrils in aspartylglycosaminuria. Altered dermal ultrastructure in a glycoprotein storage disorder.
1984
Characterization of two mannose-containing oligosaccharides isolated from the urine of patients with mannosidosis
1974
Aspartylglycosaminuria. Analysis of thirty-four patients.
1972
Enzymatic Diagnosis and Carrier Detection of Aspartylglucosaminuria Using Blood Samples
1976
Salla disease
1983
Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts
1974
Aspartylglycosaminuria: A generalized storage disease
1975