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WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
Neurogenetics. 2018 May;19(2):67-76. doi: 10.1007/s10048-018-0539-7. Epub 2018 Feb 2.
Neurogenetics. 2018.
PMID: 29396836
High intra-familiar clinical variability in MORC2 mutated CMT2 patients.
Semplicini C, Ollagnon-Roman E, Leonard-Louis S, Piguet-Lacroix G, Silvestre M, Latour P, Stojkovic T.
Semplicini C, et al. Among authors: piguet lacroix g.
Brain. 2017 Apr 1;140(4):e21. doi: 10.1093/brain/awx019.
Brain. 2017.
PMID: 28334961
No abstract available.
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In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.
Colin E, Barth M, Boussion F, Latour P, Piguet-Lacroix G, Guichet A, Ziegler A, Triau S, Loisel D, Sentilhes L, Bonneau D.
Colin E, et al. Among authors: piguet lacroix g.
JIMD Rep. 2016;28:105-110. doi: 10.1007/8904_2015_516. Epub 2015 Nov 14.
JIMD Rep. 2016.
PMID: 26563327
Free PMC article.
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Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.
Bost M, Piguet-Lacroix G, Parant F, Wilson CM.
Bost M, et al. Among authors: piguet lacroix g.
J Trace Elem Med Biol. 2012 Jun;26(2-3):97-101. doi: 10.1016/j.jtemb.2012.04.024. Epub 2012 Jun 5.
J Trace Elem Med Biol. 2012.
PMID: 22677543
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