Marangi G - Search Results

1

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant.

Luigetti M, Lattante S, Zollino M, Conte A, Marangi G, Del Grande A, Sabatelli M. Luigetti M, et al. Among authors: marangi g. Neurobiol Aging. 2011 Oct;32(10):1924.e15-8. doi: 10.1016/j.neurobiolaging.2011.04.004. Epub 2011 May 28. Neurobiol Aging. 2011. PMID: 21621297

2

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Faravelli F, et al. Among authors: marangi g. Am J Med Genet A. 2007 Jun 1;143A(11):1169-73. doi: 10.1002/ajmg.a.31723. Am J Med Genet A. 2007. PMID: 17480006

3

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.

Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G. Zollino M, et al. Among authors: marangi g. Hum Genet. 2007 Dec;122(5):423-30. doi: 10.1007/s00439-007-0412-5. Epub 2007 Aug 4. Hum Genet. 2007. PMID: 17676343

4

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

Luigetti M, Conte A, Madia F, Mereu ML, Zollino M, Marangi G, Pomponi MG, Liberatore G, Tonali PA, Sabatelli M. Luigetti M, et al. Among authors: marangi g. Muscle Nerve. 2008 Aug;38(2):1060-4. doi: 10.1002/mus.21083. Muscle Nerve. 2008. PMID: 18642376

5

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.

Marangi G, Leuzzi V, Orteschi D, Grimaldi ME, Lecce R, Neri G, Zollino M. Marangi G, et al. Am J Med Genet A. 2008 Sep 15;146A(18):2313-7. doi: 10.1002/ajmg.a.32460. Am J Med Genet A. 2008. PMID: 18688873

6

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. Zollino M, et al. Among authors: marangi g. Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. doi: 10.1002/ajmg.c.30190. Am J Med Genet C Semin Med Genet. 2008. PMID: 18932124 Review.

7

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.

Orrico A, Zollino M, Galli L, Buoni S, Marangi G, Sorrentino V. Orrico A, et al. Among authors: marangi g. Am J Med Genet A. 2009 May;149A(5):1033-5. doi: 10.1002/ajmg.a.32785. Am J Med Genet A. 2009. PMID: 19396834

8

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.

Sabatelli M, Eusebi F, Al-Chalabi A, Conte A, Madia F, Luigetti M, Mancuso I, Limatola C, Trettel F, Sobrero F, Di Angelantonio S, Grassi F, Di Castro A, Moriconi C, Fucile S, Lattante S, Marangi G, Murdolo M, Orteschi D, Del Grande A, Tonali P, Neri G, Zollino M. Sabatelli M, et al. Among authors: marangi g. Hum Mol Genet. 2009 Oct 15;18(20):3997-4006. doi: 10.1093/hmg/ddp339. Epub 2009 Jul 23. Hum Mol Genet. 2009. PMID: 19628475

9

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.

Luigetti M, Conte A, Madia F, Marangi G, Zollino M, Mancuso I, Dileone M, Del Grande A, Di Lazzaro V, Tonali PA, Sabatelli M. Luigetti M, et al. Among authors: marangi g. Neurol Sci. 2009 Dec;30(6):517-20. doi: 10.1007/s10072-009-0125-8. Epub 2009 Aug 15. Neurol Sci. 2009. PMID: 19685200

10

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G. Zollino M, et al. Among authors: marangi g. J Med Genet. 2010 Jun;47(6):429-32. doi: 10.1136/jmg.2009.071142. Epub 2009 Oct 20. J Med Genet. 2010. PMID: 19843502

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