Ricci V - Search Results

1

Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

Ricci V, Stroppiano M, Corsolini F, Di Rocco M, Parenti G, Regis S, Grossi S, Biancheri R, Mazzotti R, Filocamo M. Ricci V, et al. Hum Mutat. 2004 Jul;24(1):105. doi: 10.1002/humu.9258. Hum Mutat. 2004. PMID: 15221801

2

Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

Pittis MG, Ricci V, Guerci VI, Marçais C, Ciana G, Dardis A, Gerin F, Stroppiano M, Vanier MT, Filocamo M, Bembi B. Pittis MG, et al. Among authors: ricci v. Hum Mutat. 2004 Aug;24(2):186-7. doi: 10.1002/humu.9263. Hum Mutat. 2004. PMID: 15241805

3

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Ricci V, Regis S, Di Duca M, Filocamo M. Ricci V, et al. Hum Genet. 2003 Apr;112(4):419-25. doi: 10.1007/s00439-002-0900-6. Epub 2003 Feb 11. Hum Genet. 2003. PMID: 12579417

4

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.

Ricci V, Filocamo M, Regis S, Corsolini F, Stroppiano M, Di Duca M, Gatti R. Ricci V, et al. Am J Med Genet A. 2003 Jul 1;120A(1):84-7. doi: 10.1002/ajmg.a.10215. Am J Med Genet A. 2003. PMID: 12794697

5

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.

Regis S, Corsolini F, Ricci V, Di Duca M, Filocamo M. Regis S, et al. Among authors: ricci v. Eur J Hum Genet. 2004 Feb;12(2):150-4. doi: 10.1038/sj.ejhg.5201100. Eur J Hum Genet. 2004. PMID: 14571263

6

Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism.

Carro GH, Martín M, Savy S, Peyret V, Geysels RC, Montes FA, Bernal Barquero CE, Ricci V, Masnata ME, Masini-Repiso AM, Papendieck P, Tellechea ML, Chiesa AE, Nicola JP. Carro GH, et al. Among authors: ricci v. Front Endocrinol (Lausanne). 2024 Dec 19;15:1465176. doi: 10.3389/fendo.2024.1465176. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39749016 Free PMC article.

7

Biochemical Mechanisms and Rehabilitation Strategies in Osteoporosis-Related Pain: A Systematic Review.

Iaconisi GN, Mancini R, Ricci V, Donati D, Sconza C, Marvulli R, Ranieri M, Megna M, Varrassi G, Della Tommasa S, Bernetti A, Capobianco L, Farì G. Iaconisi GN, et al. Among authors: ricci v. Clin Pract. 2024 Dec 19;14(6):2737-2758. doi: 10.3390/clinpract14060216. Clin Pract. 2024. PMID: 39727804 Free PMC article. Review.

8

Advancing high-resolution musculoskeletal ultrasound: a histology- and anatomy-driven approach for enhanced shoulder imaging. Part 2: Anterior and lateral shoulder.

Tamborrini G, Micheroli R, Ricci V, Becciolini M, Garcia-Pompermayer M, Gonzalo ASB, Müller-Gerbl M, Margenfeld F. Tamborrini G, et al. Among authors: ricci v. J Ultrason. 2024 Dec 23;24(99):1-12. doi: 10.15557/jou.2024.0032. eCollection 2024 Dec. J Ultrason. 2024. PMID: 39720468 Free PMC article.

9

From diagnosis to rehabilitation of trigger finger: a narrative review.

Donati D, Ricci V, Boccolari P, Origlio F, Vita F, Naňka O, Catani F, Tarallo L. Donati D, et al. Among authors: ricci v. BMC Musculoskelet Disord. 2024 Dec 23;25(1):1061. doi: 10.1186/s12891-024-08192-5. BMC Musculoskelet Disord. 2024. PMID: 39716186 Free PMC article. Review.

10

Glial Derived Neurotrophic Factor and Schizophrenia Spectrum Disorders: A Scoping Review.

Ricci V, De Berardis D, Martinotti G, Maina G. Ricci V, et al. Curr Neuropharmacol. 2024 Dec 13. doi: 10.2174/011570159X340124241205095729. Online ahead of print. Curr Neuropharmacol. 2024. PMID: 39679463

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