Literature DB >> 8411996

Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis, INCL: morphological aspects.

J Rapola1, R Salonen, P Ammälä, P Santavuori.   

Abstract

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Year:  1993        PMID: 8411996     DOI: 10.1007/bf00710281

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  11 in total

1.  Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.

Authors:  I Järvelä
Journal:  Genomics       Date:  1991-06       Impact factor: 5.736

2.  Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroid-lipofuscinosis.

Authors:  J Rapola; M Haltia
Journal:  Brain       Date:  1973-12       Impact factor: 13.501

3.  Prenatal diagnosis of G M1 -gangliosidosis.

Authors:  J A Lowden; E Cutz; P E Conen; N Rudd; T A Doran
Journal:  N Engl J Med       Date:  1973-02-01       Impact factor: 91.245

4.  Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies.

Authors:  M Haltia; J Rapola; P Santavuori
Journal:  Acta Neuropathol       Date:  1973-10-11       Impact factor: 17.088

5.  DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).

Authors:  I Järvelä; J Rapola; L Peltonen; L Puhakka; J Vesa; P Ammälä; R Salonen; M Ryynänen; P Haring; A Mustonen
Journal:  Prenat Diagn       Date:  1991-05       Impact factor: 3.050

6.  Foamy changes of placental cells in fetal storage disorders.

Authors:  H C Powell; K Benirschke; B E Favara; O H Pflueger
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1976-02-16

7.  Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses.

Authors:  J Rapola; P Santavuori; E Savilahti
Journal:  Hum Pathol       Date:  1984-04       Impact factor: 3.466

8.  Morphology of the placenta in fetal I-cell disease.

Authors:  J Rapola; P Aula
Journal:  Clin Genet       Date:  1977-02       Impact factor: 4.438

Review 9.  Neuronal ceroid-lipofuscinoses in childhood.

Authors:  P Santavuori
Journal:  Brain Dev       Date:  1988       Impact factor: 1.961

10.  Placental pathology and prenatal diagnosis of infantile type of neuronal ceroid-lipofuscinosis.

Authors:  J Rapola; P Santavuori; H Heiskala
Journal:  Am J Med Genet Suppl       Date:  1988
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  1 in total

Review 1.  Therapeutic landscape for Batten disease: current treatments and future prospects.

Authors:  Tyler B Johnson; Jacob T Cain; Katherine A White; Denia Ramirez-Montealegre; David A Pearce; Jill M Weimer
Journal:  Nat Rev Neurol       Date:  2019-03       Impact factor: 42.937

  1 in total

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