1 2

International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies Selvatici, R.; Trabanelli, C.; Rossi, R.; Fini, S.; Rimessi, P.; Gualandi, F.; Ferlini, A. details >>	NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND, EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 26, No. Supplement: S, pp: 430-430, Anno: 2018

Very late onset Friedreich ataxia: a case report Selvatici, Rita; Armaroli, A.; Ravani, A.; Caniatti, M. L.; Groppo, E.; Tola, M. R.; Ferlini, Alessandra; Gualandi, F. details >>	NATURE PUBLISHING GROUP, EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 22, No. Supplement 1, pp: 178-178, Anno: 2014

Prevalence of SMN1 gene duplication in different ethnic groups: implication for carrier testing P., Rimessi; C., Trabanelli; M., Fabris; A., Venturoli; B., Dolcini; M., Taddei Masieri; Selvatici, Rita; A., Balboni; L., Melchiorri; A., Ravani; F., Gualandi; Ferlini, Alessandra details >>	NATURE PUBLISHING GROUP, EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 22, No. supplement 1, pp: 204-204, Anno: 2014

Molecular diagnosis of dominant and recessive spinocerebellar ataxias Selvatici, Rita; B., Dolcini; A., Venturoli; C., Trabanelli; S., Carturan; M., Taddei Masieri; A., Ravani; Ferlini, Alessandra details >>	NATURE PUBLISHING GROUP, EUROPEAN JOURNAL OF HUMAN GENETICS Vol. vol. 18, No. supplement 1, pp: 135-135, Anno: 2010

A window on the lab: one year of diagnostic activity in the molecular genetics laboratory of Ferrara – Italy Ravani, A.; Venturoli, A.; Rimessi, P.; Dolcini, B.; Taddei Masieri, M.; Trabanelli, C.; Carturan, S.; Brioschi, S.; Selvatici, Rita; Gualandi, F.; Ferlini, Alessandra details >>	NATURE PUBLISHING GROUP, EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 18, No. supplement 1, pp: 135-135, Anno: 2010

GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE Selvatici, Rita; Rimessi, Paola; Trabanelli, Cecilia; Venturoli, A.; Dolcini, B.; Fabris, Marina; Taddei Masieri, M.; Gualandi, Francesca; Ferlini, Alessandra; Ravani, Anna details >>	SIGU, XVIII CONGRESSO NAZIONALE SIGU pp: 256-256, Anno: 2015

NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari Neri, Marcella; Scotton, Chiara; Brioschi, Simona; G., Vattemi; Selvatici, Rita; Gualandi, Francesca; N., Levy; Ferlini, Alessandra details >>	SIGU, XIII Congresso SIGU pp: 291-291, Anno: 2010

Studio di CNVs nel locus HLA (6p21.32) mediante Array CGH in pazienti con Sclerosi Multipla e malformazioni venose Neri, M.; Bovolenta, Matteo; Gualandi, F.; Balboni, A.; Selvatici, Rita; Yurvey, A.; Salvi, F.; Gemmati, Donato; Liboni, A.; Zamboni, P.; Ferlini, Alessandra details >>	Società Italiana di Genetica Umana (SIGU)., CONGRESSO SIGU pp: 294-294, Anno: 2010

Un anno di attività diagnostica del laboratorio di Genetica molecolare di Ferrara Ravani, A.; Venturoli, A.; Trabanelli, C.; Dolcini, B.; Taddei Masieri, M.; Carturan, S.; Rimessi, P.; Gualandi, Francesca; Brioschi, Simona; Selvatici, Rita; Ferlini, Alessandra details >>	Società Italiana di Genetica Umana (SIGU)., Congresso SIGU pp: 356-356, Anno: 2010

DMD gene molecular genetic characterization in Eastern Europe and non European countries Selvatici, R; Trabanelli, C; Buldrini, B; Fini, S; Gualandi, F; Rimessi, P ); Neri, M; Fortunato, F; Potulska, A; Emandi, A; Lehman, I; Herczegfalvi, A; Guergueltcheva, V; Kyriakides, T; Sifi, Y; Molnar, M; Burnyte, B; Shatillo, A; Vlodavets, D; Ferlini, A details >>	Elsevier, . Vol. 29, No. Supplement 1, pp: S170-S170, Anno: 2019

Pura syndrome: an emerging neurodevelopmental disorder Bigoni, S.; Garani, G.; Santen, G.; Della Monica, M.; Graziano, C.; Ruivenkamp, C.; Ballardini, E.; Guerrini, R.; Magini, P.; Procopio, E.; Parrini, E.; Suppiej, A.; Colavito, D.; Maritan, V.; Hoffer, M.; Ognibene, D.; Ferlini, A. details >>	Springer, Abstracts from the 51st European Society of Human Genetics (ESHG) Conference: Poster Vol. 27, No. Suppl 1, pp: 378-379, Anno: 2019

Chromatin configuration, RNA and protein studies identified novel DNA elements that influence the dystrophin transcription dynamics Falzarano, Ms; Gherardi, S; Bovolenta, M; Passarelli, C; Erriquez, D; Scotton, C; Armaroli, A; Rossi, R; Osman, H; Mora, M; Bernasconi, P; Maggi, L; Morandi, L; Perini, G; Ferlini, A	NATURE PUBLISHING GROUP, EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 26, No. 1, pp: 427-428, Anno: 2018

RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] Falzarano, M.; Osman, H.; Rossi, R.; Selvatici, R.; Neri, M.; Gualandi, F.; Fang, M.; Zhiyuan, L.; Grilli, A.; Bicciato, S.; Ferlini, A.	V. Dubowitz, Neuromuscular Disorders Vol. 28, No. S2, pp: S145-S145, Anno: 2018

Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools Scotton, Chiara; Schwartz, E.; Falzarano, Maria Sofia; Bovolenta, Matteo; Rossi, Rachele; Armaroli, Annarita; AHMED MOHAMMED OSMAN, Hana; Gualandi, Francesca; Neri, Marcella; Lochmuller, H.; Pesole, G.; Sabatelli, Patrizia; Merlini, Luciano; Bonaldo, P.; Muntoni, F.; Gelfi, C.; Lebowitz, M.; Esser, K.; Ferlini, Alessandra details >>	Elsevier, 21st International Congress of the World Muscle Society Vol. 26, No. Suppl 2, pp: S90-S91, Anno: 2016

Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy Neri, Marcella; Scotton, Chiara; Scapoli, Chiara; Carrieri, Alberto; DI RAIMO, Francesca Romana; Bovolenta, Matteo; Gherardi, Samuele; Armaroli, Annarita; Passarelli, Chiara; D'Amico, Antonio; Bertini, E.; Pane, M.; Mercuri, E.; Pesole, G.; Wenyan, L.; Mingyan, F.; Gualandi, Francesca; Schwartz, E.; Yuryev, A.; Ferlini, Alessandra details >>	PERGAMON-ELSEVIER SCIENC, NEUROMUSCULAR DISORDERS Vol. 25, No. suppl. 2, pp: 299-299, Anno: 2015

G.P.15 Whole transcriptome expression profiling in COL6a1 null mice shows deregulation of circadian clock genes as exploratory COL6 myopathies biomarkers Bovolenta, Matteo; C., Scotton; P., Bonaldo; P., Bernardi; P., Grumati; F., Gualandi; E., Schwartz; N., Daraselia; E., Kotelnikova; Ferlini, Alessandra	Academic Press Inc Elsevier Science, Neuromuscular Disorders Vol. 22, No. 1, pp: 826-827, Anno: 2012

D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia M., Neri; Bovolenta, Matteo; C., Scotton; D., De Grandis; T., Castrignanò; B., Dallapiccola; F., Gualandi; Ferlini, Alessandra	Academic Press Inc Elsevier Science, Neuromuscular Disorders Vol. 22, No. 1, pp: 810-810, Anno: 2012

D.P.7 Whole exome sequencing as genetic diagnostic tool in myofibrillar myopathies Neri, M.; Bovolenta, Matteo; Scotton, C.; Castrignanò, T.; Vattemi, G. A. G.; Schwartz, E.; Daraselia, N.; Kotelnikova, E.; Gualandi, F.; Ferlini, Alessandra	Academic Press Inc Elsevier Science, Neuromuscular Disorders - 17th International Congress of The World Muscle Society Vol. 22, No. 9-10, pp: 809-809, Anno: 2012

D.P.12 Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers S., Brioschi; Bovolenta, Matteo; M., Neri; C., Scotton; T., Castrignanò; G., Pesole; E., Bertini; B., Dallapiccola; E., Kotelnikova; F., Gualandi; Ferlini, Alessandra	Academic Press Inc Elsevier Science, Neuromuscular Disorders Vol. 22, No. 1, pp: 811-811, Anno: 2012

P1.19 Whole genetic and protein characterisation in DMD symptomatic female carriers excludes correlation with X-inactivation and transcriptional DMD allele balancing F., Gualandi; S., Brioschi; Falzarano, Maria Sofia; Bovolenta, Matteo; A., Armaroli; C., Trabanelli; P., Rimessi; L., Merlini; E., Mercuri; M., Pane; E., Bertini; A., D’Amico; G., Siciliano; S., Tedeschi; A., Pini; D., De Grandis; T., Mongini; Ferlini, Alessandra	Academic Press Inc Elsevier Science, Neuromuscular Disorders Vol. 21, No. 1, pp: 647-647, Anno: 2011