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Cristiana Lo Nigro

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Cristiana Lo Nigro; Roberto Cusano; Gian Luigi Gigli; Paola Forabosco; Mariarosaria Valente; Roberto Ravazzolo; Marina Diomedi; Marco Seri
Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.
Giorgio Gimelli; Sabrina Giglio; Orsetta Zuffardi; Leena Alhonen; Suvikki Suppola; Roberto Cusano; Cristiana Lo Nigro; Rosanna Gatti; Roberto Ravazzolo; Marco Seri
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
Carlo Nobile; Bernd Hinzmann; Paolo Scannapieco; Reiner Siebert; Rosanna Zimbello; Jordi Perez-Tur; Theologia Sarafidou; Nicholas K Moschonas; Lisa French; Panos Deloukas; A Ciccodicola; Stefan Gesk; Juan José Poza; Cristiana Lo Nigro; Marco Seri; Brigitte Schlegelberger; A Rosenthal; Giorgio Valle; Adolpho Lopez de Munain; Carlo Alberto Tassinari; Roberto Michelucci
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia.

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All Publications

2003: Cristiana Lo Nigro; Roberto Cusano; Gian Luigi Gigli; Paola Forabosco; Mariarosaria Valente; Roberto Ravazzolo; Marina Diomedi; Marco Seri
Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.
American journal of medical genetics. Part A 2003;117A(2):116-21.
2002: Giorgio Gimelli; Sabrina Giglio; Orsetta Zuffardi; Leena Alhonen; Suvikki Suppola; Roberto Cusano; Cristiana Lo Nigro; Rosanna Gatti; Roberto Ravazzolo; Marco Seri
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
Human genetics 2002;111(3):235-41.
2002: Carlo Nobile; Bernd Hinzmann; Paolo Scannapieco; Reiner Siebert; Rosanna Zimbello; Jordi Perez-Tur; Theologia Sarafidou; Nicholas K Moschonas; Lisa French; Panos Deloukas; A Ciccodicola; Stefan Gesk; Juan José Poza; Cristiana Lo Nigro; Marco Seri; Brigitte Schlegelberger; A Rosenthal; Giorgio Valle; Adolpho Lopez de Munain; Carlo Alberto Tassinari; Roberto Michelucci
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia.
Gene 2002;282(1-2):87-94.
2000: Cristiana Lo Nigro; Roberto Cusano; M Scaranari; Roberta Cinti; Paola Forabosco; V Brescia Morra; Giuseppe De Michele; L Santoro; S Davies; J Hurst; Marcella Devoto; Roberto Ravazzolo; Marco Seri
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.
European journal of human genetics : EJHG 2000;8(10):777-82.
2000: Marco Seri; Roberto Cusano; Simone Gangarossa; Gianluca Caridi; Domenico Bordo; Cristiana Lo Nigro; Gian Marco Ghiggeri; Roberto Ravazzolo; Maria Savino; M Del Vecchio; Maria D'Apolito; Achille Iolascon; Leopoldo Zelante; Anna Savoia; Carlo L Balduini; Patrizia Noris; Umberto Magrini; S Belletti; Karen E Heath; M Babcock; Marc J Glucksman; E Aliprandis; Nicola Bizzaro; Robert J Desnick; John A Martignetti
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Nature genetics 2000;26(1):103-5.
1999: A Fogli; Sabrina Giglio; Giulia Arrigo; Cristiana Lo Nigro; Massimo Zollo; Luigi Viggiano; Mariano Rocchi; Nicoletta Archidiacono; Orsetta Zuffardi; Rosalba Carrozzo
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.
Cytogenetics and cell genetics 1999;86(3-4):225-32.
1997: Cristiana Lo Nigro; C S Chong; A C Smith; W B Dobyns; Rosalba Carrozzo; David Ledbetter
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Human molecular genetics 1997;6(2):157-64.