Molecular genetics of schizophrenia and related intermediate phenotypes in a founder population.

Genetic heterogeneity in autism spectrum disorders in a population Isolate.

Novel multiple sclerosis predisposing genetic variants outside the HLA region

Genetics of cardiovascular disease: a candidate gene study of USF1.

Molecular background of common dyslipidemias

Search for genetic variants in�uencing human height

Candidate gene studies on cardiovascular traits

Pathogenic mechanisms of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)

Search for susceptibility genes in schizophrenia

Identi�cation of the Meckel syndrome gene (MKS1) Exposes a novel ciliopathy

Investigations on molecular aspects of lethal congenital contacture syndrome

Molecular genetics of bipolar disorder and related traits

Search for genetic variants conferring the susceptibility to obesity and related metabolic traits

Genetics of schizophrenia: the 1q42 locus in Finnish families

Search for susceptibility genes in autism spectrum disorders

Identi�cation of multiple sclerosis susceptibility genes in Finnish population

The identi�cation and characterization of the hydrolethalus syndrome gene, HYLS on 11q24

Molecular genetics of lactase persistence

Searching for genes predisposing to common dyslipidemias

CLN5 – from mutation to defective protein and clinical phenotype

Characterization of aspartylglucosaminidase activation and aspartylglucosaminuria mutations

Molecular genetics of tibial muscular dystrophy (TMD) and a novel distal myopathy

Molecular pathogenesis of salla disease

Identi�cation of gene variations on chromosome 17 associated with multiple sclerosis

Defective genes behind PLOSL: molecular and neuropathological characteristics of the disease

A link between the autoimmune regulator gene (AIRE) and peripheral self-tolerance

Monogenic model for autoimmune diseases: molecular basis of autoimmune polyendocrinopathy – candidiasis – ectodermal dystrophy (APECED)

Molecular and cell biology of infantile (CLN1) and variant late infantile (CLN5) neuronal ceroid lipofuscinoses

Molecular genetics of the GRACILE syndrome

Molecular genetics of autism spectrum disorders in the Finnish population Molecular genetics of schizophrenia and

comorbid and related traits

Free sialic acid storage diseases: same gene – di�erent mutations

The search for genes predisposing to obesity

Familial amyloidosis of the Finnish type (FAF) - consequences of amyloidosis-associated mutation for gelsolin processing and function

Autosomal dominant progressive external ophthalmoplegia (adPEO): a tale of two genomes

Scoring human genomic SNPs and mutations: Multiplexed primer extension with manifolds and microarrays as solid-support

From disease gene to molecular pathogenesis: APECED

Molecular genetics of the late infantile neuronal ceroid lipofuscinosis (LINCL)

The age of the mutations in the Finnish disease heritage: a genealogical and linkage disequilibrium study

Finnish genes of hypertension

Search for familial combined hyperlipidemia susceptibility genes

Positional cloning of the CLN5 gene

Molecular genetics of Meckel syndrome

Molecular genetics of familial schizophrenia and PLO-SL (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy)

Prognosis of acute porphyrias and molecular genetics of acute intermittent porphyria in Finland

Molecular genetics of infantile onset spinocerebellar ataxia

Search for gene loci predisposing to multiple sclerosis in the Finnish population

Aspartylglucosaminuria: disease pathogenesis, developmental expression and regulation ofthe aspartylglucosaminidase gene

Aspartylglucosaminuria (AGU): lysosomal targeting of AGA, the cellular consequences of mutations and an attempt at gene therapy

Fibrillin defects in Marfan syndrome: Impact on DNA diagnosis and molecular pathogenesis

Molecular genetics of APECED (Autoimmune PolyEndocrinopathy Candidiasis Ectocermal Dystrophy)

Genetic mapping of the loci for a monogenic and a multifactorial neuropsychiatric disorder: PLO-SL and familial bipolar disorder

Mouse aspartylglucosaminidase gene and mouse model for aspartylglucosaminuria

Molecular genetics of type I �brillinopathies

Molecular pathogenesis of Marfan syndrome

Intracellular maturation of aspartylglucosaminidase

Human lysosomal. Aspartylglucosaminidase: structure, function and intracellular targeting

Genetic analyses of muscular dystrophies in Finland

Positional cloning of the INCL-gene

Molecular defect in the infantile neuronal ceroid lipofuscinosis

Molecular pathogenesis of familial amyloidosis, Finnish type

Aspartylglucosaminuria: molecular pathogenesis and in vitro correction of the enzyme defect

Molecular genetics of multiple sclerosis

Mutations of mitochondrial DNA in human disease

The human type II collagen gene and cartilage diseases

Type III procollagen N-proteinase. Puri�cation of the enzyme and the cleavage process in type VII of the Ehlers-Danlos syndrome

DNA-�ngerprinting in acute leukemia

Molecular distinction of neuronal ceroid-lipofuscinoses: assignment of separate gene loci for infantile and juvenile forms

Human 1-aspartamido-N-acetylglucosamine amidohydrolase

Hypervariable regions of human genome in identi�cation of individuals and malignant cell clones

Molecular genetics of aspartylglucosaminuria

DNA analysis in forensic science: application of the polymerase chain reaction (PCR) to the identi�cation of individuals

Molecular genetics of Marfan syndrome

Leena Peltonen-Palotie