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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Nature (London), 1995-08, Vol.376 (6541), p.584-587

1995

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Hepatotoxicity in patients with juvenile idiopathic arthritis receiving longterm methotrexate therapy

Journal of rheumatology, 2002-11, Vol.29 (11), p.2442

2002

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Mice with Ppt1Δex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

Neurobiology of disease, 2005-02, Vol.18 (1), p.226-241

2005

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Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients

Kidney international, 2000-09, Vol.58 (3), p.972-980

2000

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Kidneys with heavy proteinuria show fibrosis, inflammation, and oxidative stress, but no tubular phenotypic change

Kidney international, 2005-07, Vol.68 (1), p.121-132

2005

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A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

Human molecular genetics, 2004-12, Vol.13 (23), p.2893-2906

2004

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Mice with Ppt1 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

Neurobiology of disease, 2005-02, Vol.18 (1), p.226-241

2005

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Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse

The journal of gene medicine, 2006-06, Vol.8 (6), p.699-706

2006

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Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)

Muscle & nerve, 1994-05, Vol.17 (5), p.509-515

1994

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Mulibrey heart disease: Clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985

Circulation (New York, N.Y.), 2003-06, Vol.107 (22), p.2810-2815

2003

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Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy

Journal of the neurological sciences, 1992-12, Vol.113 (2), p.214-221

1992

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Cellular expression of xanthine oxidoreductase protein in normal human tissues

Laboratory investigation, 1999-08, Vol.79 (8), p.967

1999

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Cell-surface ganglioside GD2 in the immunohistochemical detection and differential diagnosis of neuroblastoma

American journal of clinical pathology, 1991-08, Vol.96 (2), p.248-252

1991

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Isolated proteinuria: Analysis of a school-age population

The Journal of pediatrics, 1982-11, Vol.101 (5), p.661-668

1982

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Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations

The Lancet (British edition), 2002-05, Vol.359 (9317), p.1575-1577

2002

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Characterization of polycystic kidneys with lectins and differentiation markers of the nephron

Proceedings of the Sixth International Lectin Meeting, Poznan, Poland, September 2–6, 1984, 2020, Vol.4, p.83-88

Originally published 1985, 2020

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Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria

The Lancet (British edition), 1998-02, Vol.351 (9101), p.490-493

1998

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Microscopic hematuria in schoolchildren: Epidemiology and clinicopathologic evaluation

The Journal of pediatrics, 1979-11, Vol.95 (5), p.676-684

1979

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Infection-associated intimal thickening in the coronary arteries of children

Atherosclerosis, 1999-02, Vol.142 (2), p.425-429

1999

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Apoptotic cell death in the normal and cryptorchid human testis: the effect of human chorionic gonadotropin on testicular cell survival

Pediatric research, 1996-08, Vol.40 (2), p.351-356

1996

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Polycystic kidney disease

APMIS : acta pathologica, microbiologica et immunologica Scandinavica, 1988-01, Vol.96 (1-6), p.68-76

1988

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Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

American journal of medical genetics, 1998-03, Vol.76 (2), p.137-144

1998

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Immunohistochemical spectrum of rhabdomyosarcoma and rhabdomyosarcoma-like tumors. Expression of cytokeratin and the 68-kD neurofilament protein

The American journal of surgical pathology, 1989-02, Vol.13 (2), p.120-132

1989

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Osteitis caused by bacille Calmette-Guérin vaccination: a retrospective analysis of 222 cases

The Journal of infectious diseases, 1995-08, Vol.172 (2), p.574-576

1995

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Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

Neurobiology of disease, 2005-02, Vol.18 (1), p.226-241

2005

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Hepatotoxicity in patients with juvenile idiopathic arthritis receiving longterm methotrexate therapy

Mice with Ppt1Δex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients

Kidneys with heavy proteinuria show fibrosis, inflammation, and oxidative stress, but no tubular phenotypic change

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

Mice with Ppt1 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse

Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)

Mulibrey heart disease: Clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985

Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy

Cellular expression of xanthine oxidoreductase protein in normal human tissues

Cell-surface ganglioside GD2 in the immunohistochemical detection and differential diagnosis of neuroblastoma

Isolated proteinuria: Analysis of a school-age population

Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations

Characterization of polycystic kidneys with lectins and differentiation markers of the nephron

Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria

Microscopic hematuria in schoolchildren: Epidemiology and clinicopathologic evaluation

Infection-associated intimal thickening in the coronary arteries of children

Apoptotic cell death in the normal and cryptorchid human testis: the effect of human chorionic gonadotropin on testicular cell survival

Polycystic kidney disease

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

Immunohistochemical spectrum of rhabdomyosarcoma and rhabdomyosarcoma-like tumors. Expression of cytokeratin and the 68-kD neurofilament protein

Osteitis caused by bacille Calmette-Guérin vaccination: a retrospective analysis of 222 cases

Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

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