Publications by authors named "Luciana Musante"

35Publications

Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation.

Epileptic Disord 2020 Oct 15. Epub 2020 Oct 15.

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste.

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http://dx.doi.org/10.1684/epd.2020.1204DOI Listing
October 2020

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

Neuropediatrics 2020 02 18;51(1):72-75. Epub 2019 Oct 18.

Charité-Universitätsmedizin Berlin, Klinik für Pädiatrie mit Schwerpunkt Neurologie, Augustenburger Platz 1, Berlin, Germany.

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http://dx.doi.org/10.1055/s-0039-1695787DOI Listing
February 2020

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Am J Hum Genet 2015 Mar 19;96(3):386-96. Epub 2015 Feb 19.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375531PMC
March 2015

NDST1 missense mutations in autosomal recessive intellectual disability.

Am J Med Genet A 2014 Nov 14;164A(11):2753-63. Epub 2014 Aug 14.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36723DOI Listing
November 2014

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.

Cell Cycle 2014 1;13(10):1650-1. Epub 2014 Apr 1.

Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.

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http://dx.doi.org/10.4161/cc.28706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4050170PMC
February 2016

Genetics of recessive cognitive disorders.

Trends Genet 2014 Jan 28;30(1):32-9. Epub 2013 Oct 28.

Max Planck Institute of Molecular Genetics, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.tig.2013.09.008DOI Listing
January 2014

Germline KRAS mutations cause Noonan syndrome.

Nat Genet 2006 Mar 12;38(3):331-6. Epub 2006 Feb 12.

Department of Pediatrics, University of California, 513 Parnassus Avenue, San Francisco, California 94143, USA.

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http://dx.doi.org/10.1038/ng1748DOI Listing
March 2006