Mandich P - Search Results

1

T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype.

Origone P, Caponnetto C, Verdiani S, Mantero V, Cichero E, Fossa P, Bellone E, Mancardi G, Mandich P. Origone P, et al. Among authors: mandich p. Amyotroph Lateral Scler. 2012 Jun;13(4):398-9. doi: 10.3109/17482968.2012.684216. Amyotroph Lateral Scler. 2012. PMID: 22632445 No abstract available.

2

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.

Mandich P, James R, Nassani S, Defferrari R, Bellone E, Mancardi G, Schenone A, Abbruzzese M, Rocchi M, Ajmar F, et al. Mandich P, et al. J Neurol. 1995 May;242(5):295-8. doi: 10.1007/BF00878871. J Neurol. 1995. PMID: 7643137

3

17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1.

Mancardi GL, Uccelli A, Bellone E, Sghirlanzoni A, Mandich P, Pareyson D, Schenone A, Abbruzzese M, Ajmar F. Mancardi GL, et al. Among authors: mandich p. Eur Neurol. 1994;34(3):135-9. doi: 10.1159/000117026. Eur Neurol. 1994. PMID: 8033938

4

Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies.

Schenone A, Nobbio L, Mandich P, Bellone E, Abbruzzese M, Aymar F, Mancardi GL, Windebank AJ. Schenone A, et al. Among authors: mandich p. Neurology. 1997 Feb;48(2):445-9. doi: 10.1212/wnl.48.2.445. Neurology. 1997. PMID: 9040736

5

Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies.

Schenone A, Nobbio L, Caponnetto C, Abbruzzese M, Mandich P, Bellone E, Ajmar F, Gherardi G, Windebank AJ, Mancardi G. Schenone A, et al. Among authors: mandich p. Ann Neurol. 1997 Dec;42(6):866-72. doi: 10.1002/ana.410420607. Ann Neurol. 1997. PMID: 9403478

6

Congenital hypomyelination due to myelin protein zero Q215X mutation.

Mandich P, Mancardi GL, Varese A, Soriani S, Di Maria E, Bellone E, Bado M, Gross L, Windebank AJ, Ajmar F, Schenone A. Mandich P, et al. Ann Neurol. 1999 May;45(5):676-8. doi: 10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k. Ann Neurol. 1999. PMID: 10319895

7

Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset.

Lamba LD, Ciotti P, Giribaldi G, Di Maria E, Varese A, Di Stadio M, Schenone A, Mandich P, Bellone E. Lamba LD, et al. Among authors: mandich p. Eur Neurol. 2009;61(4):240-3. doi: 10.1159/000198417. Epub 2009 Jan 31. Eur Neurol. 2009. PMID: 19182486 Free article. No abstract available.

8

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.

Mandich P, Fossa P, Capponi S, Geroldi A, Acquaviva M, Gulli R, Ciotti P, Manganelli F, Grandis M, Bellone E. Mandich P, et al. Eur J Hum Genet. 2009 Sep;17(9):1129-34. doi: 10.1038/ejhg.2009.37. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293842 Free PMC article.

9

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling.

Origone P, Caponnetto C, Bandettini Di Poggio M, Ghiglione E, Bellone E, Ferrandes G, Mancardi GL, Mandich P. Origone P, et al. Among authors: mandich p. Amyotroph Lateral Scler. 2010;11(1-2):223-7. doi: 10.3109/17482960903165039. Amyotroph Lateral Scler. 2010. PMID: 19714537

10

Heterozygous D90A-SOD1 mutation in an Italian ALS patient with atypical presentation.

Origone P, Caponnetto C, Mascolo M, Mandich P. Origone P, et al. Among authors: mandich p. Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):492. doi: 10.3109/17482960903055966. Amyotroph Lateral Scler. 2009. PMID: 19922148 No abstract available.

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