Literature DB >> 35359556

CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome with Brain Stem Malformation.

Sudhakar Karunakaran1, Bejoy Thomas2, Ramshekhar Menon1, Muralidharan Nair1, Sruthi S Nair1, Soumya Sundaram3.   

Abstract

Entities:  

Year:  2020        PMID： 35359556      PMCID： PMC8965947          DOI： 10.4103/aian.AIAN_673_20

Source DB:  PubMed          Journal:  Ann Indian Acad Neurol        ISSN： 0972-2327            Impact factor:   1.383


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  10 in total

1.  CEDNIK syndrome results from loss-of-function mutations in SNAP29.

Authors:  D Fuchs-Telem; H Stewart; D Rapaport; J Nousbeck; A Gat; M Gini; Y Lugassy; S Emmert; K Eckl; H C Hennies; O Sarig; D Goldsher; B Meilik; A Ishida-Yamamoto; M Horowitz; E Sprecher
Journal:  Br J Dermatol       Date:  2011-02-17       Impact factor: 9.302

2.  SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons.

Authors:  Ping-Yue Pan; Qian Cai; Lin Lin; Pei-Hua Lu; Shumin Duan; Zu-Hang Sheng
Journal:  J Biol Chem       Date:  2005-05-12       Impact factor: 5.157

3.  A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.

Authors:  Eli Sprecher; Akemi Ishida-Yamamoto; Mordechai Mizrahi-Koren; Debora Rapaport; Dorit Goldsher; Margarita Indelman; Orit Topaz; Ilana Chefetz; Hanni Keren; Timothy J O'brien; Dani Bercovich; Stavit Shalev; Dan Geiger; Reuven Bergman; Mia Horowitz; Hanna Mandel
Journal:  Am J Hum Genet       Date:  2005-06-20       Impact factor: 11.025

Review 4.  Molecular pathogenesis of peripheral neuropathies: insights from Drosophila models.

Authors:  Julia Bussmann; Erik Storkebaum
Journal:  Curr Opin Genet Dev       Date:  2017-02-16       Impact factor: 5.578

5.  Loss of SNAP29 impairs endocytic recycling and cell motility.

Authors:  Debora Rapaport; Yevgenia Lugassy; Eli Sprecher; Mia Horowitz
Journal:  PLoS One       Date:  2010-03-18       Impact factor: 3.240

Review 6.  A developmental and genetic classification for midbrain-hindbrain malformations.

Authors:  A James Barkovich; Kathleen J Millen; William B Dobyns
Journal:  Brain       Date:  2009-12       Impact factor: 13.501

7.  Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation.

Authors:  Stina A Schiller; Christina Seebode; Georg L Wieser; Sandra Goebbels; Wiebke Möbius; Mia Horowitz; Ofer Sarig; Eli Sprecher; Steffen Emmert
Journal:  J Invest Dermatol       Date:  2015-12-30       Impact factor: 8.551

Review 8.  Polymicrogyria: pathology, fetal origins and mechanisms.

Authors:  Waney Squier; Anna Jansen
Journal:  Acta Neuropathol Commun       Date:  2014-07-22       Impact factor: 7.801

Review 9.  Genes and brain malformations associated with abnormal neuron positioning.

Authors:  Jeffrey J Moffat; Minhan Ka; Eui-Man Jung; Woo-Yang Kim
Journal:  Mol Brain       Date:  2015-11-05       Impact factor: 4.041

10.  CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Authors:  Tina Hsu; Carrie C Coughlin; Kristin G Monaghan; Elise Fiala; Robert C McKinstry; Alex R Paciorkowski; Marwan Shinawi
Journal:  Child Neurol Open       Date:  2017-10-08
  10 in total
  1 in total

Review 1.  Reversible cerebral vasoconstriction syndrome: review of neuroimaging findings.

Authors:  Teresa Perillo; Chiara Paolella; Giulia Perrotta; Antonietta Serino; Ferdinando Caranci; Andrea Manto
Journal:  Radiol Med       Date:  2022-08-06       Impact factor: 6.313
  1 in total

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