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Next Generation Sequencing and ALS: known genes, different phenotyphes.
Campopiano R, Ryskalin L, Giardina E, Zampatti S, Busceti CL, Biagioni F, Ferese R, Storto M, Gambardella S, Fornai F. Campopiano R, et al. Among authors: gambardella s. Arch Ital Biol. 2017 Dec 1;155(4):110-117. doi: 10.12871/00039829201742. Arch Ital Biol. 2017. PMID: 29405028 Review.
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).
Ferese R, Albano V, Falconi M, Iacovelli F, Campopiano R, Scala S, Griguoli AM, Gaglione A, Giardina E, Zampatti S, Storto M, Fornai F, D'Alessio C, Novelli G, Gambardella S. Ferese R, et al. Among authors: gambardella s. Arch Ital Biol. 2017 Dec 1;155(4):118-130. doi: 10.12871/000398292017410. Arch Ital Biol. 2017. PMID: 29405036 No abstract available.
143 results