DeGrandis D - Search Results

1

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.

Ghezzi D, Viscomi C, Ferlini A, Gualandi F, Mereghetti P, DeGrandis D, Zeviani M. Ghezzi D, et al. Among authors: degrandis d. Hum Mol Genet. 2009 Mar 15;18(6):1058-64. doi: 10.1093/hmg/ddn441. Epub 2009 Jan 5. Hum Mol Genet. 2009. PMID: 19124534 Free article.

2

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.

Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, van Kuppevelt TH, Dallapiccola B, van Engelen BG, Ferlini A, Tomelleri G. Guglielmi V, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):162-9. doi: 10.1016/j.ymgme.2013.07.015. Epub 2013 Jul 20. Mol Genet Metab. 2013. PMID: 23911890

3

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A. Brioschi S, et al. BMC Med Genet. 2012 Aug 16;13:73. doi: 10.1186/1471-2350-13-73. BMC Med Genet. 2012. PMID: 22894145 Free PMC article.

4

Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.

Patrosso MC, Salvi F, De Grandis D, Vezzoni P, Jacobson DR, Ferlini A. Patrosso MC, et al. Am J Med Genet. 1998 May 1;77(2):135-8. doi: 10.1002/(sici)1096-8628(19980501)77:2<135::aid-ajmg5>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9605286

5

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.

Imbrici P, Gualandi F, D'Adamo MC, Masieri MT, Cudia P, De Grandis D, Mannucci R, Nicoletti I, Tucker SJ, Ferlini A, Pessia M. Imbrici P, et al. Neuroscience. 2008 Dec 2;157(3):577-87. doi: 10.1016/j.neuroscience.2008.09.022. Epub 2008 Sep 24. Neuroscience. 2008. PMID: 18926884

6

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Tupler R, Barbierato L, Memmi M, Sewry CA, De Grandis D, Maraschio P, Tiepolo L, Ferlini A. Tupler R, et al. J Med Genet. 1998 Sep;35(9):778-83. doi: 10.1136/jmg.35.9.778. J Med Genet. 1998. PMID: 9733041 Free PMC article.

7

A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene.

Fortunato F, Neri M, Geroldi A, Bellone E, De Grandis D, Ferlini A, Gualandi F. Fortunato F, et al. Clin Neurol Neurosurg. 2017 Dec;163:15-17. doi: 10.1016/j.clineuro.2017.09.012. Epub 2017 Oct 5. Clin Neurol Neurosurg. 2017. PMID: 29031079 No abstract available.

8

Report of a novel ATP7A mutation causing distal motor neuropathy.

Gualandi F, Sette E, Fortunato F, Bigoni S, De Grandis D, Scotton C, Selvatici R, Neri M, Incensi A, Liguori R, Storbeck M, Karakaya M, Simioni V, Squarzoni S, Timmerman V, Wirth B, Donadio V, Tugnoli V, Ferlini A. Gualandi F, et al. Neuromuscul Disord. 2019 Oct;29(10):776-785. doi: 10.1016/j.nmd.2019.08.008. Epub 2019 Aug 23. Neuromuscul Disord. 2019. PMID: 31558336

9

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.

Neri M, Selvatici R, Scotton C, Trabanelli C, Armaroli A, De Grandis D, Levy N, Gualandi F, Ferlini A. Neri M, et al. Neuromuscul Disord. 2013 Jun;23(6):478-82. doi: 10.1016/j.nmd.2013.02.003. Epub 2013 Mar 28. Neuromuscul Disord. 2013. PMID: 23541687

10

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.

Palka C, Giuliani R, Brancati F, Mohn A, Di Muzio A, Calabrese O, Huebner A, De Grandis D, Chiarelli F, Ferlini A, Stuppia L. Palka C, et al. Clin Genet. 2010 Mar;77(3):298-301. doi: 10.1111/j.1399-0004.2009.01348.x. Clin Genet. 2010. PMID: 20447142 No abstract available.

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