Literature DB >> 22699964

Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

Roberto Di Fabio, Giovanna Comanducci, Francesca Piccolo, Filippo Maria Santorelli, Teresa De Berardinis, Alessandra Tessa, Umberto Sabatini, Francesco Pierelli, Carlo Casali.   

Abstract

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Year:  2013        PMID： 22699964     DOI： 10.1007/s12311-012-0396-0

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


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  19 in total

Review 1.  The genetic basis of complex strabismus.

Authors:  Elizabeth C Engle
Journal:  Pediatr Res       Date:  2006-03       Impact factor: 3.756

2.  CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.

Authors:  E J Doherty; M E Macy; S M Wang; C P Dykeman; M T Melanson; E C Engle
Journal:  Invest Ophthalmol Vis Sci       Date:  1999-07       Impact factor: 4.799

3.  A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.

Authors:  E C Sener; B A Lee; B Turgut; A N Akarsu; E C Engle
Journal:  Arch Ophthalmol       Date:  2000-08

4.  Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.

Authors:  M Nakano; K Yamada; J Fain; E C Sener; C J Selleck; A H Awad; J Zwaan; P B Mullaney; T M Bosley; E C Engle
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

Review 5.  Congenital fibrosis of the extraocular muscles.

Authors:  Gena Heidary; Elizabeth C Engle; David G Hunter
Journal:  Semin Ophthalmol       Date:  2008 Jan-Feb       Impact factor: 1.975

6.  Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

Authors:  Koki Yamada; Wai-Man Chan; Caroline Andrews; Thomas M Bosley; Emin C Sener; Johan T Zwaan; Paul B Mullaney; Banu T Oztürk; A Nurten Akarsu; Louise J Sabol; Joseph L Demer; Timothy J Sullivan; Irene Gottlob; Peter Roggenkäemper; David A Mackey; Clara E De Uzcategui; Nicolas Uzcategui; Bruria Ben-Zeev; Elias I Traboulsi; Adriano Magli; Teresa de Berardinis; Vincenzo Gagliardi; Sudha Awasthi-Patney; Marlene C Vogel; Joseph F Rizzo; Elizabeth C Engle
Journal:  Invest Ophthalmol Vis Sci       Date:  2004-07       Impact factor: 4.799

7.  Congenital fibrosis syndrome associated with central nervous system abnormalities.

Authors:  Christina Pieh; Hans Hilmar Goebel; Elizabeth C Engle; Irene Gottlob
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2003-06-18       Impact factor: 3.117

8.  Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia.

Authors:  Kunihiro Yoshida; Tomomi Okano; Kenichi Hoshi; Hiroyuki Yahikozawa; Kayo Suzuki; Haruhiko Banno; Takuya Tamura; Gen Sobue; Shu-ichi Ikeda
Journal:  Am J Med Genet A       Date:  2007-07-01       Impact factor: 2.802

9.  The anatomy of the cerebellar nuclei in the normal and scrambler mouse as revealed by the expression of the microtubule-associated protein kinesin light chain 3.

Authors:  Seunghyuk Chung; Ying Zhang; Frans Van Der Hoorn; Richard Hawkes
Journal:  Brain Res       Date:  2007-04-06       Impact factor: 3.252

10.  Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice.

Authors:  Y Yonekawa; A Harada; Y Okada; T Funakoshi; Y Kanai; Y Takei; S Terada; T Noda; N Hirokawa
Journal:  J Cell Biol       Date:  1998-04-20       Impact factor: 10.539
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