Literature DB >> 10993506

An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).

O Sanal, L Yel, T Kucukali, E Gilbert-Barnes, M Tardieu, I Texcan, F Ersoy, A Metin, G de Saint Basile.   

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Year:  2000        PMID： 10993506     DOI： 10.1007/s004150070162

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

1.  Griscelli syndrome types 1 and 2.

Authors:  Gaël Ménasché; Alain Fischer; Geneviève de Saint Basile
Journal:  Am J Hum Genet       Date:  2002-11       Impact factor: 11.025

2.  Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

Authors:  Deniz Cağdaş; Tuba Turul Ozgür; Gülten Türkkanı Asal; Ilhan Tezcan; Ayşe Metin; Nathalie Lambert; Geneiveve de Saint Basile; Ozden Sanal
Journal:  Eur J Pediatr       Date:  2012-06-19       Impact factor: 3.183

3.  Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity.

Authors:  Ozden Sanal; Fúgen Ersoy; Ilhan Tezcan; Ayşe Metin; Leman Yel; Gaël Ménasché; Aytemiz Gürgey; Izzet Berkel; Geneviève de Saint Basile
Journal:  J Clin Immunol       Date:  2002-07       Impact factor: 8.317

4.  Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Authors:  Yair Anikster; Marjan Huizing; Paul D Anderson; Diana L Fitzpatrick; Aharon Klar; Eva Gross-Kieselstein; Yackov Berkun; Gila Shazberg; William A Gahl; Haggit Hurvitz
Journal:  Am J Hum Genet       Date:  2002-06-07       Impact factor: 11.025

5.  Molecular and comparative genetics of mental retardation.

Authors:  Jennifer K Inlow; Linda L Restifo
Journal:  Genetics       Date:  2004-02       Impact factor: 4.562

6.  Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations.

Authors:  R Raghunatha Reddy; Balaji M Babu; B Venkateshwaramma; Ch Hymavathi
Journal:  Int J Trichology       Date:  2011-07

7.  Myosin Va Brain-Specific Mutation Alters Mouse Behavior and Disrupts Hippocampal Synapses.

Authors:  Swarna Pandian; Jian-Ping Zhao; Yasunobu Murata; Fernando J Bustos; Cansu Tunca; Ramiro D Almeida; Martha Constantine-Paton
Journal:  eNeuro       Date:  2020-11-23

8.  MyosinV controls PTEN function and neuronal cell size.

Authors:  Michiel T van Diepen; Maddy Parsons; C Peter Downes; Nicholas R Leslie; Robert Hindges; Britta J Eickholt
Journal:  Nat Cell Biol       Date:  2009-09-20       Impact factor: 28.824

9.  Role of Myosin Va in the plasticity of the vertebrate neuromuscular junction in vivo.

Authors:  Ira Verena Röder; Yvonne Petersen; Kyeong Rok Choi; Veit Witzemann; John A Hammer; Rüdiger Rudolf
Journal:  PLoS One       Date:  2008-12-05       Impact factor: 3.240
  9 in total

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