Literature DB >> 26843564

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

Grazia M S Mancini1, Rachel Schot2, Marie Claire Y de Wit2, René F de Coo2, Rianne Oostenbrink2, Karen Bindels-de Heus2, Lieke P V Berger2, Maarten H Lequin2, Femke A T de Vries2, Martina Wilke2, Marjon A van Slegtenhorst2.   

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Year:  2016        PMID： 26843564     DOI： 10.1212/WNL.0000000000002422

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  4 in total

1.  Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

Authors:  Alan O'Brien; Christian R Marshall; Susan Blaser; Peter N Ray; Grace Yoon
Journal:  Eur J Hum Genet       Date:  2017-04-05       Impact factor: 4.246

2.  Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice.

Authors:  Katarin Gorski; Albert Spoljaric; Tuula A Nyman; Kai Kaila; Brendan J Battersby; Anna-Elina Lehesjoki
Journal:  Front Mol Neurosci       Date:  2020-11-13       Impact factor: 5.639

3.  Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.

Authors:  Francesco Di Matteo; Fabrizia Pipicelli; Christina Kyrousi; Isabella Tovecci; Eduardo Penna; Marianna Crispino; Angela Chambery; Rosita Russo; Ane Cristina Ayo-Martin; Martina Giordano; Anke Hoffmann; Emilio Ciusani; Laura Canafoglia; Magdalena Götz; Rossella Di Giaimo; Silvia Cappello
Journal:  EMBO Mol Med       Date:  2020-05-07       Impact factor: 12.137

4.  Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors.

Authors:  Suzy Varderidou-Minasian; Lisa Hinz; Dominique Hagemans; Danielle Posthuma; Maarten Altelaar; Vivi M Heine
Journal:  Mol Autism       Date:  2020-05-27       Impact factor: 7.509
  4 in total

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