IRIS

MANDICH, PAOLA

MANDICH, PAOLA  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili  

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17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 1-gen-1994 Mancardi, G. L.; Uccelli, A.; Bellone, E.; Sghirlanzoni, A.; Mandich, P.; Pareyson, D.; Schenone, A.; Abbruzzese, M.; Ajmar, F.
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. 1-gen-2017 Mandich, P; Lamp, M; Gotta, F; Gulli, R; Iacometti, A; Marchese, R; Bellone, E; Abbruzzese, G; Ferrandes, G
[Specific enzymatic amplification of a DNA region closely associated with Huntington chorea]. 1-gen-1990 G., Novelli; Mandich, Paola; A., Ruzzo; F., Mannello; Ajmar, Franco; B., Dallapiccola
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 1-gen-2023 Massucco, S; Fiorillo, C; Gemelli, C; Bellone, E; Patrone, S; Mandich, P; Scarsi, E; Faedo, E; Marinelli, L; Mongini, T; Traverso, M; Schenone, A; Grandis, M
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 1-gen-2022 Ruscitti, Federica; Origone, Paola; Rosti, Giulia; Trevisan, Lucia; Marchese, Roberta; Brugnolo, Andrea; Massa, Federico; Castellini, Paola; Mandich, Paola
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. 1-gen-2002 Bellone, Emilia; Rodolico, C.; Toscano, A.; DI MARIA, Emilio; Cassandrini, D.; Pizzuti, A.; Pigullo, S.; Mazzeo, A.; Macaione, V.; Girlanda, P.; Vita, G.; Ajmar, Franco; Mandich, Paola
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 1-gen-2011 Mandich, Paola; E., Majounie; A., Waite; J., Simón Sánchez; S., Rollinson; J. R., Gibbs; J. C., Schymick; H., Laaksovirta; J. C., Van; L., Myllykangas; H., Kalimo; A., Paetau; Y., Abramzon; A. M., Remes; A., Kaganovich; S. W., Scholz; J., Duckworth; J., Ding; D. W., Harmer; D. G., Hernandez; J. O., Johnson; K., Mok; M., Ryten; D., Trabzuni; R. J., Guerreiro; R. W., Orrell; J., Neal; A., Murray; J., Pearson; I. E., Jansen; D., Sondervan; H., Seelaar; D., Blake; K., Young; N., Halliwell; J. B., Callister; G., Toulson; A., Richardson; A., Gerhard; J., Snowden; D., Mann; D., Neary; M. A., Nalls; T., Peuralinna; L., Jansson; V., Isoviita; A., Kaivorinne; M., Hölttä Vuori; E., Ikonen; R., Sulkava; M., Benatar; J., Wuu; A., Chiò; G., Restagno; G., Borghero; M., Sabatelli; Mancardi, GIOVANNI LUIGI; D., Heckerman; E., Rogaeva; L., Zinman; J. D., Rothstein; M., Sendtner; C., Drepper; E. E., Eichler; C., Alkan; Z., Abdullaev; S. D., Pack; A., Dutra; E., Pak; J., Hardy; A., Singleton; N. M., Williams; P., Heutink; S., Pickering Brown; H. R., Morris; P. J., Tienari; B. J., Traynor
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 1-gen-2022 Geroldi, Alessandro; Trevisan, Lucia; Gaudio, Andrea; Gotta, Fabio; Patrone, Serena; Origone, Paola; Grandis, Marina; Gemelli, Chiara; Schenone, Angelo; Accogli, Andrea; Zara, Federico; Mandich, Paola; Bellone, Emilia
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient 1-gen-2015 Origone, P; Verdiani, S; BANDETTINI DI POGGIO, MONICA LAURA; Zuccarino, R; Vignolo, M; Caponnetto, C; Mandich, P.
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 1-gen-2012 Manganelli, F; Pisciotta, C; Nolano, M; Capponi, Simona; Geroldi, Alessandro; Topa, A; Bellone, Emilia; Suls, A; Mandich, Paola; Santoro, L.
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 1-gen-2023 Geroldi, A.; Tozza, S.; Fiorillo, C.; Nolano, M.; Fossa, P.; Vitale, F.; Domi, R.; Gaudio, A.; Mammi, A.; Patrone, S.; Barbera, A. L.; Origone, P.; Ponti, C.; Sanguineri, F.; Zara, F.; Cataldi, M.; Salpietro, V.; Venturi, C. B.; Massucco, S.; Schenone, A.; Manganelli, F.; Mandich, P.; Bellone, E.; Gotta, F.
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 1-gen-2014 Ciotti, P; Luigetti, M; Geroldi, Alessandro; Capponi, Simona; Pezzini, I; Gulli, R; Pazzaglia, C; Padua, L; Massa, R; Mandich, Paola; Bellone, Emilia
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). 1-gen-2010 Rongioletti, Franco; Fausti, V; Ferrando, B; Parodi, Aurora; Mandich, P; Pasini, B.
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 1-gen-1999 Bellone, Emilia; DI MARIA, Emilio; Soriani, S; Varese, A; Doria, Ll; Ajmar, Franco; Mandich, Paola
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 1-gen-2019 Gemelli, Chiara; Prada, Valeria; Fiorillo, Chiara; Fabbri, Sabrina; Maggi, Lorenzo; Geroldi, Alessandro; Gibertini, Sara; Mandich, Paola; Trevisan, Lucia; Fossa, Paola; Tagliafico, Alberto Stefano; Schenone, Angelo; Grandis, Marina.
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 1-gen-2004 DI MARIA, Emilio; Gulli, R.; Balestra, P.; Cassandrini, D.; Pigullo, S.; DORIA LAMBA, L.; Bado, M.; Schenone, Angelo; Ajmar, Franco; Mandich, Paola; Bellone, Emilia
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 1-gen-2004 Santoro, L.; Manganelli, F.; DI MARIA, Emilio; Bordo, D.; Cassandrini, D.; Ajmar, Franco; Mandich, Paola; Bellone, Emilia
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 1-gen-2020 Gotta, F; Lamp, M; Geroldi, A; Trevisan, L; Origone, P; Fugazza, G; Fabbri, S; Nesti, C; Rubegni, A; Morani, F; Santorelli, Fm; Bellone, E; Mandich, P.
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 1-gen-2007 Gulli, R; Masnata, B; Bonvicini, C; Tura, Gb; Manglaviti, L; Vaggi, M; Mollica, M; Bellone, Emilia; Mandich, Paola; Gennarelli, M; DI MARIA, Emilio
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing 1-gen-2022 Marinella, G.; Astrea, G.; Buchignani, B.; Cassandrini, D.; Doccini, S.; Filosto, M.; Galatolo, D.; Gallone, S.; Giannini, F.; Lopergolo, D.; Maioli, M. A.; Magri, F.; Malandrini, A.; Mandich, P.; Mari, F.; Massa, R.; Mata, S.; Melani, F.; Moggio, M.; Mongini, T. E.; Pasquariello, R.; Pegoraro, E.; Ricci, F.; Ricci, G.; Rodolico, C.; Rubegni, A.; Siciliano, G.; Sperti, M.; Ticci, C.; Tonin, P.; Santorelli, F. M.; Battini, R.