Madia F - Search Results

1

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.

Luigetti M, Madia F, Conte A, Marangi G, Zollino M, Del Grande A, Dileone M, Tonali PA, Sabatelli M. Luigetti M, et al. Among authors: madia f. Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):479-82. doi: 10.3109/17482960802302261. Amyotroph Lateral Scler. 2009. PMID: 19922144

2

Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting.

Saia F, Prato A, Saccuzzo L, Madia F, Barone R, Fichera M, Rizzo R. Saia F, et al. Among authors: madia f. Genes (Basel). 2023 Feb 15;14(2):500. doi: 10.3390/genes14020500. Genes (Basel). 2023. PMID: 36833427 Free PMC article.

3

Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.

Romano F, Madia F, De Marco P, Ognibene M, Guerrisi S, Scala M, Iacomino M, Baldassari S, Vercellino N, Manunza F, Tallone R, Pavanello M, Piatelli G, Garaventa A, Zara F, Capra V. Romano F, et al. Among authors: madia f. Birth Defects Res. 2022 Dec 1;114(20):1440-1448. doi: 10.1002/bdr2.2113. Epub 2022 Nov 8. Birth Defects Res. 2022. PMID: 36345927

4

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: madia f. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.

5

Pure motor chronic inflammatory demyelinating polyneuropathy.

Sabatelli M, Madia F, Mignogna T, Lippi G, Quaranta L, Tonali P. Sabatelli M, et al. Among authors: madia f. J Neurol. 2001 Sep;248(9):772-7. doi: 10.1007/s004150170093. J Neurol. 2001. PMID: 11596782

6

Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease.

Sabatelli M, Quaranta L, Madia F, Lippi G, Conte A, Lo Monaco M, Di Trapani G, Rafi MA, Wenger DA, Vaccaro AM, Tonali P. Sabatelli M, et al. Among authors: madia f. Neuromuscul Disord. 2002 May;12(4):386-91. doi: 10.1016/s0960-8966(01)00285-1. Neuromuscul Disord. 2002. PMID: 12062257

7

Occurrence of nerve entrapment lesion in chronic inflammatory demyelinating polyneuropathy.

Padua L, Caliandro P, Aprile I, Sabatelli M, Madia F, Tonali P. Padua L, et al. Among authors: madia f. Clin Neurophysiol. 2004 May;115(5):1140-4. doi: 10.1016/j.clinph.2003.12.007. Clin Neurophysiol. 2004. PMID: 15066539

8

Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy.

Modoni A, Mirabella M, Madia F, Sanna T, Lanza G, Tonali PA, Silvestri G. Modoni A, et al. Among authors: madia f. Neurology. 2007 Jan 9;68(2):161-2. doi: 10.1212/01.wnl.0000251194.82212.75. Neurology. 2007. PMID: 17210903 No abstract available.

9

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.

Santoro M, Modoni A, Sabatelli M, Madia F, Piemonte F, Tozzi G, Ricci E, Tonali PA, Silvestri G. Santoro M, et al. Among authors: madia f. Mol Genet Metab. 2007 May;91(1):111-4. doi: 10.1016/j.ymgme.2006.12.004. Epub 2007 Jan 23. Mol Genet Metab. 2007. PMID: 17251047

10

Natural history of young-adult amyotrophic lateral sclerosis.

Sabatelli M, Madia F, Conte A, Luigetti M, Zollino M, Mancuso I, Lo Monaco M, Lippi G, Tonali P. Sabatelli M, et al. Among authors: madia f. Neurology. 2008 Sep 16;71(12):876-81. doi: 10.1212/01.wnl.0000312378.94737.45. Epub 2008 Jul 2. Neurology. 2008. PMID: 18596241

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