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Pregled bibliografske jedinice broj: 275437

Cortical neuronal morphology and MR spectroscopy in Walker-Warburg syndrome caused by novel POMT1 mutation

Barić, Ivo; Radoš, Marko; Fumić, Ksenija; Sarnavka, Vladimir; Strahl, Sabine; Willer, T.; Gross, C.; Hehr, U.; Ćuk, Martin; Judaš, Miloš
Cortical neuronal morphology and MR spectroscopy in Walker-Warburg syndrome caused by novel POMT1 mutation // Abstracts of the ..... ; u: Journal of Inherited Metabolic Disease 29 (2006) (S1) 142-142 ; P-13 : Congenital Anomalies ; P-13-2, 2006. str. 142-142 (poster, međunarodna recenzija, sažetak, znanstveni)

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Naslov
Cortical neuronal morphology and MR spectroscopy in Walker-Warburg syndrome caused by novel POMT1 mutation

Autori
Barić, Ivo ; Radoš, Marko ; Fumić, Ksenija ; Sarnavka, Vladimir ; Strahl, Sabine ; Willer, T. ; Gross, C. ; Hehr, U. ; Ćuk, Martin ; Judaš, Miloš

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts of the ..... ; u: Journal of Inherited Metabolic Disease 29 (2006) (S1) 142-142 ; P-13 : Congenital Anomalies ; P-13-2 / - , 2006, 142-142

Mjesto i datum
,

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Walker-Warburg syndrome; muscular dystrophy; brain abnormalities; ocular abnormalities

Sažetak
Walker-Warburg syndrome is an autosomal recessive disease, belonging to the group of congenital muscular dystrophies. Clinically, main characteristics are congenital brain and occular abnormalities and muscular dystrophy. The syndrome is genetically heterogenous, with mutations found so far in five different genes. We report new nauropathological and neuroradiological changes in an infant with WWS and novel genotype.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

Napomena
DOI:10.1007/s10545-006-9995-6



POVEZANOST RADA

Projekti:
0108016

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Miloš Judaš (autor)

Avatar Url Marko Radoš (autor)

Avatar Url Ksenija Fumić (autor)

Avatar Url Ivo Barić (autor)

Avatar Url Vladimir Sarnavka (autor)

download.springer.com

Citiraj ovu publikaciju:

Barić, Ivo; Radoš, Marko; Fumić, Ksenija; Sarnavka, Vladimir; Strahl, Sabine; Willer, T.; Gross, C.; Hehr, U.; Ćuk, Martin; Judaš, Miloš
Cortical neuronal morphology and MR spectroscopy in Walker-Warburg syndrome caused by novel POMT1 mutation // Abstracts of the ..... ; u: Journal of Inherited Metabolic Disease 29 (2006) (S1) 142-142 ; P-13 : Congenital Anomalies ; P-13-2, 2006. str. 142-142 (poster, međunarodna recenzija, sažetak, znanstveni)
Barić, I., Radoš, M., Fumić, K., Sarnavka, V., Strahl, S., Willer, T., Gross, C., Hehr, U., Ćuk, M. & Judaš, M. (2006) Cortical neuronal morphology and MR spectroscopy in Walker-Warburg syndrome caused by novel POMT1 mutation. U: Abstracts of the ..... ; u: Journal of Inherited Metabolic Disease 29 (2006) (S1) 142-142 ; P-13 : Congenital Anomalies ; P-13-2.
@article{article, author = {Bari\'{c}, Ivo and Rado\v{s}, Marko and Fumi\'{c}, Ksenija and Sarnavka, Vladimir and Strahl, Sabine and Willer, T. and Gross, C. and Hehr, U. and \'{C}uk, Martin and Juda\v{s}, Milo\v{s}}, year = {2006}, pages = {142-142}, keywords = {Walker-Warburg syndrome, muscular dystrophy, brain abnormalities, ocular abnormalities}, title = {Cortical neuronal morphology and MR spectroscopy in Walker-Warburg syndrome caused by novel POMT1 mutation}, keyword = {Walker-Warburg syndrome, muscular dystrophy, brain abnormalities, ocular abnormalities} }
@article{article, author = {Bari\'{c}, Ivo and Rado\v{s}, Marko and Fumi\'{c}, Ksenija and Sarnavka, Vladimir and Strahl, Sabine and Willer, T. and Gross, C. and Hehr, U. and \'{C}uk, Martin and Juda\v{s}, Milo\v{s}}, year = {2006}, pages = {142-142}, keywords = {Walker-Warburg syndrome, muscular dystrophy, brain abnormalities, ocular abnormalities}, title = {Cortical neuronal morphology and MR spectroscopy in Walker-Warburg syndrome caused by novel POMT1 mutation}, keyword = {Walker-Warburg syndrome, muscular dystrophy, brain abnormalities, ocular abnormalities} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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