Literature DB >> 26152802

Long-term survival in a patient with muscle-eye-brain disease.

Raffaele Falsaperla1, Leandra Giunta1, Riccardo Lubrano2, Rosario Foti3, Giovanna Vitaliti4.   

Abstract

Entities:  

Keywords:  Childhood; Congenital muscular dystrophy (CMD); Long-term survival; MRI; Muscle–eye–brain

Mesh：

Substances：

Year:  2015        PMID： 26152802     DOI： 10.1007/s10072-015-2321-z

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


× No keyword cloud information.
  6 in total

1.  Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Authors:  Kiyomi Taniguchi; Kazuhiro Kobayashi; Kayoko Saito; Hideo Yamanouchi; Akira Ohnuma; Yukiko K Hayashi; Hiroshi Manya; Dong Kyu Jin; Munhyang Lee; Enrico Parano; Raffaele Falsaperla; Piero Pavone; Rudy Van Coster; Beril Talim; Alice Steinbrecher; Volker Straub; Ichizo Nishino; Haluk Topaloglu; Thomas Voit; Tamao Endo; Tatsushi Toda
Journal:  Hum Mol Genet       Date:  2003-03-01       Impact factor: 6.150

2.  Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

Authors:  A Yoshida; K Kobayashi; H Manya; K Taniguchi; H Kano; M Mizuno; T Inazu; H Mitsuhashi; S Takahashi; M Takeuchi; R Herrmann; V Straub; B Talim; T Voit; H Topaloglu; T Toda; T Endo
Journal:  Dev Cell       Date:  2001-11       Impact factor: 12.270

3.  Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations.

Authors:  Y Fukuyama; M Osawa; H Suzuki
Journal:  Brain Dev       Date:  1981       Impact factor: 1.961

4.  Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

Authors:  Wenli Zhang; Jiri Vajsar; Pinjiang Cao; Galen Breningstall; Charlotta Diesen; William Dobyns; Ralph Herrmann; Anna-Elina Lehesjoki; Alice Steinbrecher; Beril Talim; Tatsushi Toda; Haluk Topaloglu; Thomas Voit; Harry Schachter
Journal:  Clin Biochem       Date:  2003-07       Impact factor: 3.281

5.  Muscle-eye-brain disease (MEB)

Authors:  P Santavuori; H Somer; K Sainio; J Rapola; S Kruus; T Nikitin; L Ketonen; J Leisti
Journal:  Brain Dev       Date:  1989       Impact factor: 1.961

6.  Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

Authors:  Uluç Yiş; Gökhan Uyanik; Deborah Morris Rosendahl; Kürşat Bora Carman; Erhan Bayram; Marisol Heise; Gamze Cömertpay; Semra Hız Kurul
Journal:  Pediatr Neurol       Date:  2014-01-07       Impact factor: 3.372
  6 in total
  1 in total

Review 1.  Congenital muscular dystrophy: from muscle to brain.

Authors:  Raffaele Falsaperla; Andrea D Praticò; Martino Ruggieri; Enrico Parano; Renata Rizzo; Giovanni Corsello; Giovanna Vitaliti; Piero Pavone
Journal:  Ital J Pediatr       Date:  2016-08-31       Impact factor: 2.638
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.