Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1). (Q50468558)

14 March 2018

title

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1). (English)

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5

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Christer Holmberg

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object named as

Christer Holmberg

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author name string

Hanne Laakkonen

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Tuula Lönnqvist

2

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Johanna Uusimaa

3

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Erik Qvist

4

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Matti Nuutinen

6

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Marja Ala-Houhala

7

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Kari Majamaa

8

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Hannu Jalanko

9

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publication date

17 December 2005

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published in

Pediatric Nephrology

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volume

21

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page(s)

182-189

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issue

2

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https://scigraph.springernature.com/pub.10.1007/s00467-005-2116-1

exact match

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cites work

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Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

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

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Microcephaly and early-onset nephrotic syndrome--confusion in Galloway-Mowat syndrome

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Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis

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Management of congenital nephrotic syndrome of the Finnish type

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Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis.

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Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19

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Nephrin is specifically located at the slit diaphragm of glomerular podocytes

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Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

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Pathogenesis of proteinuria: lessons learned from nephrin and podocin.

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Congenital nephrotic syndrome of Finnish type. Study of 75 patients

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Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

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Nephrin is expressed in the pancreatic beta cells

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[Congenital microcephaly with muscle hypotonia and nephrotic syndrome]

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Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type

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Nephrin is an important component of the barrier system in the testis.

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The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death

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Convenient single-step, one tube purification of PCR products for direct sequencing

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10.1007/S00467-005-2116-1

Identifiers

DOI

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14 March 2018

PubMed ID

16362719

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14 March 2018