RETE DELLE BIOBANCHE GENETICHE TELETHON

L'obbiettivo della ricerca

Ricercatore titolare

MIRELLA FILOCAMO

Partners

CHIARA BALDO

Le Biobanche Genetiche sono unità di servizio non-profit, finalizzate a raccolta, conservazione e distribuzione di campioni biologici con l'obiettivo di offrire servizi alle persone affette da malattie genetiche, alle Associazioni di Pazienti e alla comunità scientifica: consentono infatti di conservare campioni nel tempo secondo elevati standard di qualità, e renderli disponibili successivamente per diagnosi e ricerca in malattie genetiche.

Diversi esempi dimostrano come l'accesso a un elevato numero di campioni faciliti enormemente l'individuazione di nuovi geni malattia e lo sviluppo di terapie. Scopo della Rete delle Biobanche Genetiche Telethon è pertanto quello di coordinare, a livello informatico, biobanche qualificate in modo da centralizzare campioni rari in un unico catalogo e migliorare l'accesso ai servizi, assicurando qualità dei campioni per i ricercatori, e tutela della privacy per i donatori, durante l'intero percorso dalla raccolta e conservazione all'uso di campioni e dati. La Rete, fondata nel 2008, attualmente comprende 10 Biobanche. Ognuna raccoglie linee cellulari, DNA e tessuti da pazienti con varie malattie genetiche. Ad oggi, sono conservati circa 80.000 campioni biologici per oltre 750 differenti difetti genetici. Situate presso Strutture Sanitarie, le Biobanche sono geograficamente così distribuite: Genova:Cell Line and DNA Biobank with Genetic Diseases Galliera Genetic Bank Milano: Human Genetic Bank of Patients affected by Parkinson's Disease/Parkinsonism Bank of DNA, Cell lines and Nerve-Muscle-Cardiac tissues Cell, tissues and DNA from Patients with Neuromuscular Diseases Cell Line and DNA Bank of Paediatric Movement Disorders Padova: Neuromuscular Bank of Tissues and DNA samples Siena: Cell lines and DNA bank of Rett S, X-linked mental retardation and other genetic diseases S. Giovanni Rotondo: Genetic Biobank from Patients with Williams-Beuren S and other genomic disorders Napoli: Naples Human Mutation Gene Biobank

Malattie

Malattie genetiche in generale

Le Biobanche Genetiche sono unità di servizio non-profit, finalizzate a raccolta, conservazione e distribuzione di campioni biologici con l'obiettivo di offrire servizi alle persone affette da malattie genetiche, alle Associazioni di Pazienti e alla comunità scientifica: consentono infatti di conservare campioni nel tempo secondo elevati standard di qualità, e renderli disponibili successivamente per diagnosi e ricerca in malattie genetiche.

Pubblicazioni scientifiche

2016 NEUROGENETICS
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Cao, M; Dona, M; Valentino, L; Semplicini, C; Maresca, A; Cassina, M; Torraco, A; Galletta, E; Manfioli, V; Soraru, G; Carelli, V; Stramare, R; Bertini, E; Carozzo, R; Salviati, L; Pegoraro, ECittà: 1 (*)
2015 MOLECULAR & CELLULAR PROTEOMICS
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation
Colak, G; Pougovkina, O; Dai, LZ; Tan, MJ; te Brinke, H; Huang, H; Cheng, ZY; Park, J; Wan, XL; Liu, XJ; Yue, WW; Wanders, RJA; Locasale, JW; Lombard, DB; de Boer, VCJ; Zhao, YMCittà: 3 (*)
2015 CELL REPORTS
TNF-alpha-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy
Fiorillo, AA; Heier, CR; Novak, JS; Tully, CB; Brown, KJ; Uaesoontrachoon, K; Vila, MC; Ngheim, PP; Bello, L; Kornegay, JN; Angelini, C; Partridge, TA; Nagaraju, K; Hoffman, EPCittà: 2 (*)
2015 JOURNAL OF MEDICAL GENETICS
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
Dhanraj, S; Gunja, SMR; Deveau, AP; Nissbeck, M; Boonyawat, B; Coombs, AJ; Renieri, A; Mucciolo, M; Marozza, A; Buoni, S; Turner, L; Li, HB; Jarrar, A; Sabanayagam, M; Kirby, M; Shago, M; Pinto, D; Berman, JN; Scherer, SW; Virtanen, A; Dror, YCittà: 6 (*)
2015 HUMAN MUTATION
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
Grozeva, D; Carss, K; Spasic-Boskovic, O; Tejada, MI; Gecz, J; Shaw, M; Corbett, M; Haan, E; Thompson, E; Friend, K; Hussain, Z; Hackett, A; Field, M; Renieri, A; Stevenson, R; Schwartz, C; Floyd, JAB; Bentham, J; Cosgrove, C; Keavney, B; Bhattacharya, S;Città: 3 (*)
2015 JOURNAL OF NANOSCIENCE AND NANOTECHNOLOGY
Use of Polylactide-Co-Glycolide-Nanoparticles for Lysosomal Delivery of a Therapeutic Enzyme in Glycogenosis Type II Fibroblasts
Brunella, T; Giovanni, T; Barbara, B; Diego, D; Alessandro, M; Eleonora, D; Lorena, U; Barbara, R; Flavio, F; Carla, E; Angela, VM; Maria, SGCittà: 1 (*)
2015 NEUROLOGY
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
Wang, LS; Aasly, JO; Annesi, G; Bardien, S; Bozi, M; Brice, A; Carr, J; Chung, SJ; Clarke, C; Crosiers, D; Deutschlander, A; Eckstein, G; Farrer, MJ; Goldwurm, S; Garraux, G; Hadjigeorgiou, GM; Hicks, AA; Hattori, N; Klein, C; Jeon, B; Kim, YJ; Lesage, S;Città: 1 (*)
2015 ChemBioChem
Human Acid beta-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease
Parmeggiani, C; Catarzi, S; Matassini, C; D'Adamio, G; Morrone, A; Goti, A; Paoli, P; Cardona, FCittà: 6 (*)
2015 CLINICAL GENETICS
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients
Spena, S; Milani, D; Rusconi, D; Negri, G; Colapietro, P; Elcioglu, N; Bedeschi, F; Pilotta, A; Spaccini, L; Ficcadenti, A; Magnani, C; Scarano, G; Selicorni, A; Larizza, L; Gervasini, CCittà: 4 (*)
2015 NEUROBIOLOGY OF DISEASE
Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells
Ambrosi, G; Ghezzi, C; Zangaglia, R; Levandis, G; Pacchetti, C; Blandini, FCittà: 1 (*)
2015 MOLECULAR AND CELLULAR BIOCHEMISTRY
Novel protein-protein interactions of TPPII, p53, and SIRT7
2015 EUROPEAN JOURNAL OF HUMAN GENETICS
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
Mora, M; Angelini, C; Bignami, F; Bodin, AM; Crimi, M; Di Donato, JH; Felice, A; Jaeger, C; KarCagi, V; LeCam, Y; Lynn, S; Meznaric, M; Moggio, M; Monaco, L; Politano, L; de la Paz, MP; Saker, S; Schneiderat, P; Ensini, M; Garavaglia, B; Gurwitz, D; JohnsCittà: 3 (*)
2015 ELIFE
Potassium dependent rescue of a myopathy with core-like structures in mouse
Hanson, MG; Wilde, JJ; Moreno, RL; Minic, AD; Niswander, LCittà: 1 (*)
2015 JOURNAL OF MEDICAL GENETICS
Evidence of digenic inheritance in Alport syndrome
Mencarelli, MA; Heidet, L; Storey, H; van Geel, M; Knebelmann, B; Fallerini, C; Miglietti, N; Antonucci, MF; Cetta, F; Sayer, JA; van den Wijngaard, A; Yau, S; Mari, F; Bruttini, M; Ariani, F; Dahan, K; Smeets, B; Antignac, C; Flinter, F; Renieri, ACittà: 6 (*)
2015 PARKINSONISM & RELATED DISORDERS
TREM2 R47H variant and risk of essential tremor: A cross-sectional international multicenter study
Ortega-Cubero, S; Lorenzo-Betancor, O; Lorenzo, E; Agundez, JAG; Jimenez-Jimenez, FJ; Ross, OA; Wurster, I; Mielke, C; Lin, JJ; Coria, F; Clarimon, J; Ezquerra, M; Brighina, L; Annesi, G; Alonso-Navarro, H; Garcia-Martin, E; Gironell, A; Marti, MJ; Yueh, Città: 4 (*)
2015 JOURNAL OF CHILD NEUROLOGY
A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset
Fusco, C; Frattini, D; Panteghini, C; Pascarella, R; Garavaglia, BCittà: 2 (*)
2015 JOURNAL OF CELLULAR PHYSIOLOGY
Inhibition of Metalloproteinase Activity in FANCA Is Linked to Altered Oxygen Metabolism
Ravera, S; Capanni, C; Tognotti, D; Bottega, R; Columbaro, M; Dufour, C; Cappelli, E; Degan, PCittà: 1 (*)
2015 CELL DEATH AND DIFFERENTIATION
AMBRA1 is able to induce mitophagy via LC3 binding, regardless of PARKIN and p62/SQSTM1
Strappazzon, F; Nazio, F; Corrado, M; Cianfanelli, V; Romagnoli, A; Fimia, GM; Campello, S; Nardacci, R; Piacentini, M; Campanella, M; Cecconi, FCittà: 19 (*)
2015 NEUROGENETICS
An exome study of Parkinsons disease in Sardinia, a Mediterranean genetic isolate
Quadri, M; Yang, X; Cossu, G; Olgiati, S; Saddi, VM; Breedveld, GJ; Ouyang, L; Hu, JC; Xu, N; Graafland, J; Ricchi, V; Murgia, D; Guedes, LC; Mariani, C; Marti, MJ; Tarantino, P; Asselta, R; Valldeoriola, F; Gagliardi, M; Pezzoli, G; Ezquerra, M; QuattronCittà: 4 (*)
2015 NEUROMUSCULAR DISORDERS
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family
Baranello, G; Saredi, S; Sansanelli, S; Savadori, P; Canioni, E; Chiapparini, L; Balestri, P; Malandrini, A; Arnoldi, MT; Pantaleoni, C; Morandi, L; Mora, MCittà: 2 (*)
2015 CANCER LETTERS
Collagen type V promotes the malignant phenotype of pancreatic ductal adenocarcinoma
Berchtold, S; Grunwald, B; Kruger, A; Reithmeier, A; Hahl, T; Cheng, T; Feuchtinger, A; Born, D; Erkan, M; Kleeff, J; Esposito, ICittà: 2 (*)
2015 NATURE GENETICS
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages
Adamo, A; Atashpaz, S; Germain, PL; Zanella, M; D'Agostino, G; Albertin, V; Chenoweth, J; Micale, L; Fusco, C; Unger, C; Augello, B; Palumbo, O; Hamilton, B; Carella, M; Donti, E; Pruneri, G; Selicorni, A; Biamino, E; Prontera, P; Mckay, R; Merla, G; TestCittà: 14 (*)
2015 BRAIN & DEVELOPMENT
Coffin-Sins and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability
Mari, F; Marozza, A; Mencarelli, MA; Lo Rizzo, C; Fallerini, C; Dosa, L; Di Marco, C; Carignani, G; Baldassarri, M; Cianci, P; Vivarelli, R; Vascotto, M; Grosso, S; Rubegni, P; Caffarelli, C; Pretegiani, E; Fimiani, M; Garavelli, L; Cristofoli, F; VermeesCittà: 2 (*)
2015 NEUROLOGY
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
Semplicini, C; Vissing, J; Dahlqvist, JR; Stojkovic, T; Bello, L; Witting, N; Duno, M; Leturcq, F; Bertolin, C; D'Ambrosio, P; Eymard, B; Angelini, C; Politano, L; Laforet, P; Pegoraro, ECittà: 4 (*)
2015 NEUROMUSCULAR DISORDERS
Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family
Colombo, I; Pagliarani, S; Testolin, S; Salsano, E; Napoli, LM; Bordoni, A; Salani, S; D'Adda, E; Morandi, L; Farina, L; Magri, E; Riva, M; Prelle, A; Sciacco, M; Comi, GP; Moggio, MCittà: 1 (*)
2015 HUMAN GENETICS
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire
Rusconi, D; Negri, G; Colapietro, P; Picinelli, C; Milani, D; Spena, S; Magnani, C; Silengo, MC; Sorasio, L; Curtisova, V; Cavaliere, ML; Prontera, P; Stangoni, G; Ferrero, GB; Biamino, E; Fischetto, R; Piccione, M; Gasparini, P; Salviati, L; Selicorni, ACittà: 3 (*)
2015 STEM CELLS
Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration
Murray, A; Letourneau, A; Canzonetta, C; Stathaki, E; Gimelli, S; Sloan-Bena, F; Abrehart, R; Goh, P; Lim, S; Baldo, C; Dagna-Bricarelli, F; Hannan, S; Mortensen, M; Ballard, D; Court, DS; Fusaki, N; Hasegawa, M; Smart, TG; Bishop, C; Antonarakis, SE; GroCittà: 6 (*)
2015 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy
Zanotti, S; Gibertini, S; Curcio, M; Savadori, P; Pasanisi, B; Morandi, L; Comelio, F; Mantegazza, R; Mora, MCittà: 1 (*)
2015 JAMA NEUROLOGY
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy
Ripolone, M; Ronchi, D; Violano, R; Vallejo, D; Fagiolari, G; Barca, E; Lucchini, V; Colombo, I; Villa, L; Berardinelli, A; Balottin, U; Morandi, L; Mora, M; Bordoni, A; Fortunato, F; Corti, S; Parisi, D; Toscano, A; Sciacco, M; DiMauro, S; Comi, GP; MoggCittà: 6 (*)
2015 NATURE PROTOCOLS
Efficient derivation and inducible differentiation of expandable skeletal myogenic cells from human ES and patient-specific iPS cells
Maffioletti, SM; Gerli, MFM; Ragazzi, M; Dastidar, S; Benedetti, S; Loperfido, M; VandenDriessche, T; Chuah, MK; Tedesco, FSCittà: 3 (*)
2015 EMBO MOLECULAR MEDICINE
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy
Bee, L; Nasca, A; Zanolini, A; Cendron, F; d'Adamo, P; Costa, R; Lamperti, C; Celotti, L; Ghezzi, D; Zeviani, MCittà: 2 (*)
2015 CELL
A Conserved Circular Network of Coregulated Lipids Modulates Innate Immune Responses
Koberlin, MS; Snijder, B; Heinz, LX; Baumann, CL; Fauster, A; Vladimer, GI; Gavin, AC; Superti-Furga, GCittà: 12 (*)
2015 EUROPEAN JOURNAL OF HUMAN GENETICS
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
Vetro, A; Dehghani, MR; Kraoua, L; Giorda, R; Beri, S; Cardarelli, L; Merico, M; Manolakos, E; Parada-Bustamante, A; Castro, A; Radi, O; Camerino, G; Brusco, A; Sabaghian, M; Sofocleous, C; Forzano, F; Palumbo, P; Palumbo, O; Calvano, S; Zelante, L; GrammCittà: 2 (*)
2015 STEM CELL REPORTS
Alpha-Synuclein Expression in the Oligodendrocyte Lineage: an In Vitro and In Vivo Study Using Rodent and Human Models
Djelloul, M; Holmqvist, S; Boza-Serrano, A; Azevedo, C; Yeung, MS; Goldwurm, S; Frisen, J; Deierborg, T; Roybon, LCittà: 4 (*)
2015 ONCOTARGET
The 5 '-untranslated region of p16(INK4a) melanoma tumor suppressor acts as a cellular IRES, controlling mRNA translation under hypoxia through YBX1 binding
Bisio, A; Latorre, E; Andreotti, V; Bressac-de Paillerets, B; Harland, M; Scarra, GB; Ghiorzo, P; Spitale, RC; Provenzani, A; Inga, ACittà: 2 (*)
2015 PLOS ONE
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy
Barp, A; Bello, L; Politano, L; Melacini, P; Calore, C; Polo, A; Vianello, S; Soraru, G; Semplicini, C; Pantic, B; Taglia, A; Picillo, E; Magri, F; Gorni, K; Messina, S; Vita, GL; Vita, G; Comi, GP; Ermani, M; Calvo, V; Angelini, C; Hoffman, EP; Pegoraro,Città: 2 (*)
2015 AMERICAN JOURNAL OF HUMAN GENETICS
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
Reyes, A; Melchionda, L; Nasca, A; Carrara, F; Lamantea, E; Zanolini, A; Lamperti, C; Fang, MY; Zhang, JG; Ronchi, D; Bonato, S; Fagiolari, G; Moggio, M; Ghezzi, D; Zeviani, MCittà: 2 (*)
2015 JOURNAL OF BIORESOURCES
Genomic and Genetic Disorders Biobank
2015 EUROPEAN JOURNAL OF HUMAN GENETICS
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells
Livide, G; Patriarchi, T; Amenduni, M; Amabile, S; Yasui, D; Calcagno, E; Lo Rizzo, C; De Falco, G; Ulivieri, C; Ariani, F; Mari, F; Mencarelli, MA; Hell, JW; Renieri, A; Meloni, ICittà: 10 (*)
2014 PLOS ONE
Treatment of FANCA Cells with Resveratrol and N-Acetylcysteine: A Comparative Study
Columbaro, M; Ravera, S; Capanni, C; Panfoli, I; Cuccarolo, P; Stroppiana, G; Degan, P; Cappelli, ECittà: 2 (*)
2014 NEUROLOGY
Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia
Cilia, R; Reale, C; Castagna, A; Nasca, A; Muzi-Falconi, M; Barzaghi, C; Marzegan, A; Granata, M; Marotta, G; Sacilotto, G; Vallauri, D; Pezzoli, G; Goldwurm, S; Garavaglia, BCittà: 1 (*)
2014 PARKINSONISM & RELATED DISORDERS
LRRK2 mutations in Parkinson's Disease: confirmation of a gender effect in the Italian population
Cilia R; Siri C; Rusconi D; Allegra R; Ghiglietti A; Sacilotto G; Zini M. Zecchinelli AL; Asselta R; Duga S; Paganoni AM; Pezzoli G; Seia M; Goldwurm SCittà: 2 (*)
2014 CLINICAL GENETICS
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases
Fallerini, C; Dosa, L; Tita, R; Del Prete, D; Feriozzi, S; Gai, G; Clementi, M; La Manna, A; Miglietti, N; Mancini, R; Mandrile, G; Ghiggeri, GM; Piaggio, G; Brancati, F; Diano, L; Frate, E; Pinciaroli, AR; Giani, M; Castorina, P; Bresin, E; Giachino, D; Città: 3 (*)
2014 JOURNAL OF INHERITED METABOLIC DISEASE
Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism
Pougovkina, O; te Brinke, H; Wanders, RJA; Houten, SM; de Boer, VCJCittà: 2 (*)
2014 HAEMATOLOGICA
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology
De Rocco, D; Bottega, R; Cappelli, E; Cavani, S; Criscuolo, M; Nicchia, E; Corsolini, F; Greco, C; Borriello, A; Svahn, J; Pillon, M; Mecucci, C; Casazza, G; Verzegnassi, F; Cugno, C; Locasciulli, A; Farruggia, P; Longoni, D; Ramenghi, U; Barberi, W; TuccCittà: 2 (*)
2014 NEUROLOGY
Novel CLN3 mutation causing autophagic vacuolar myopathy
Cortese, A; Tucci, A; Piccolo, G; Galimberti, CA; Fratta, P; Marchioni, E; Grampa, G; Cereda, C; Grieco, G; Ricca, I; Pittman, A; Ciscato, P; Napoli, L; Lucchini, V; Ripolone, M; Violano, R; Fagiolari, G; Mole, SE; Hardy, J; Moglia, A; Moggio, MCittà: 3 (*)
2014 MUSCLE & NERVE
MUSCLE ATROPHY, UBIQUITIN-PROTEASOME, AND AUTOPHAGIC PATHWAYS IN DYSFERLINOPATHY
Fanin, M; Nascimbeni, AC; Angelini, CCittà: 1 (*)
2014 AMERICAN JOURNAL OF HUMAN GENETICS
ELOVLS Mutations Cause Spinocerebellar Ataxia 38
Di Gregorio, E; Borroni, B; Giorgio, E; Lacerenza, D; Ferrero, M; Lo Buono, N; Ragusa, N; Mancini, C; Gaussen, M; Calcia, A; Mitro, N; Hoxha, E; Mura, I; Coviello, DA; Moon, YA; Tesson, C; Vaula, G; Couarch, P; Orsi, L; Duregon, E; Papotti, MG; Deleuze, JF; Imbert, J; Costanzi, C; Padovani, A; Giunti, P; Maillet-Vioud, M; Durr, A; Brice, A; Tempia, F; Funaro, A; Boccone, L; Caruso, D; Stevanin, G; Brusco, ACittà: 2 (*)
2014 EMBO MOLECULAR MEDICINE
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies
Ayoglu, B; Chaouch, A; Lochmuller, H; Politano, L; Bertini, E; Spitali, P; Hiller, M; Niks, EH; Gualandi, F; Ponten, F; Bushby, K; Aartsma-Rus, A; Schwartz, E; Le Priol, Y; Straub, V; Uhlen, M; Cirak, S; 't Hoen, PAC; Muntoni, F; Ferlini, A; Schwenk, JM; Nilsson, P; Szigyarto, CACittà: 1 (*)
2014 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
Disciglio, V; Lo Rizzo, C; Mencarelli, MA; Mucciolo, M; Marozza, A; Di Marco, C; Massarelli, A; Canocchi, V; Baldassarri, M; Ndoni, E; Frullanti, E; Amabile, S; Anderlid, BM; Metcalfe, K; Le Caignec, C; David, A; Fryer, A; Boute, O; Joris, A; Greco, D; Pecile, V; Battini, R; Novelli, A; Fichera, M; Romano, C; Mari, F; Renieri, ACittà: 1 (*)
2014 MOVEMENT DISORDERS
Alpha-Synuclein Repeat Variants and Survival in Parkinsons Disease
Chung, SJ; Biernacka, JM; Armasu, SM; Anderson, K; Frigerio, R; Aasly, JO; Annesi, G; Bentivoglio, AR; Brighina, L; Chartier-Harlin, MC; Goldwurm, S; Hadjigeorgiou, G; Jasinska-Myga, B; Jeon, BS; Kim, YJ; Kruger, R; Lesage, S; Markopoulou, K; Mellick, G; Morrison, KE; Puschmann, A; Tan, EK; Crosiers, D; Theuns, J; Van Broeckhoven, C; Wirdefeldt, K; Wszolek, ZK; Elbaz, A; Maraganore, DM; Genetic Epidemiology Parkinson's DCittà: 1 (*)
2014 NATURE COMMUNICATIONS
iPSC-derived neurons from GBA1-associated Parkinsons disease patients show autophagic defects and impaired calcium homeostasis
Schondorf, DC; Aureli, M; McAllister, FE; Hindley, CJ; Mayer, F; Schmid, B; Sardi, SP; Valsecchi, M; Hoffmann, S; Schwarz, LK; Hedrich, U; Berg, D; Shihabuddin, LS; Hu, J; Pruszak, J; Gygi, SP; Sonnino, S; Gasser, T; Deleidi, MCittà: 6 (*)
2014 PLOS ONE
Mitochondrial Changes in Platelets Are Not Related to Those in Skeletal Muscle during Human Septic Shock
Protti, A; Fortunato, F; Caspani, ML; Pluderi, M; Lucchini, V; Grimoldi, N; Solimeno, LP; Fagiolari, G; Ciscato, P; Zella, SMA; Moggio, M; Comi, GP; Gattinoni, LCittà: 1 (*)
2014 CLINICAL NEUROPATHOLOGY
Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients
Fanin, M; Nascimbeni, AC; Angelini, CCittà: 1 (*)
2014 HUMAN MOLECULAR GENETICS
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
Fogh, I; Ratti, A; Gellera, C; Lin, K; Tiloca, C; Moskvina, V; Corrado, L; Soraru, G; Cereda, C; Corti, S; Gentilini, D; Calini, D; Castellotti, B; Mazzini, L; Querin, G; Gagliardi, S; Del Bo, R; Conforti, FL; Siciliano, G; Inghilleri, M; Sacca, F; Bongioanni, P; Penco, S; Corbo, M; Sorbi, S; Filosto, M; Ferlini, A; Di Blasio, AM; Signorini, S; Shatunov, A; Jones, A; Shaw, PJ; Morrison, KE; Farmer, AE; Van Damme, P; Robberecht, W; Chi, A; Traynor, BJ; Sendtner, M; Melki, J; Meininger, V; Hardiman, O; Andersen, PM; Leigh, NP; Glass, JD; Overste, D; Diekstra, FP; Veldink, JH; van Es, MA; Shaw, CE; Weale, ME; Lewis, CM; Williams, J; Brown, RH; Landers, JE; Ticozzi, N; Ceroni, M; Pegoraro, E; Comi, GP; DAlfonso, S; van den Berg, LH; Taroni, F; Al-Chalabi, A; Powell, J; Silani, V; SLAGEN ConsorCittà: 8 (*)
2014 EUROPEAN JOURNAL OF HUMAN GENETICS
Functional analysis of 11 novel GBA alleles
Malini, E; Grossi, S; Deganuto, M; Rosano, C; Parini, R; Dominisini, S; Cariati, R; Zampieri, S; Bembi, B; Filocamo, M; Dardis, ACittà: 1 (*)
2014 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
9q31.1q31.3 Deletion in Two Patients With Similar Clinical Features: A Newly Recognized Microdeletion Syndrome?
Mucciolo, M; Magini, P; Marozza, A; Mongelli, P; Mencarelli, MA; Hayek, G; Tavalazzi, F; Mari, F; Seri, M; Renieri, A; Graziano, CCittà: 1 (*)
2014 BMC GENOMICS
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
Kalko, SG; Paco, S; Jou, C; Rodriguez, MA; Meznaric, M; Rogac, M; Jekovec-Vrhovsek, M; Sciacco, M; Moggio, M; Fagiolari, G; De Paepe, B; De Meirleir, L; Ferrer, I; Roig-Quilis, M; Munell, F; Montoya, J; Lopez-Gallardo, E; Ruiz-Pesini, E; Artuch, R; Montero, R; Torner, F; Nascimento, A; Ortez, C; Colomer, J; Jimenez-Mallebrera, CCittà: 1 (*)
2014 MOVEMENT DISORDERS
Myoclonus in Mitochondrial Disorders
Mancuso, M; Orsucci, D; Angelini, C; Bertini, E; Catteruccia, M; Pegoraro, E; Carelli, V; Valentino, ML; Comi, GP; Minetti, C; Bruno, C; Moggio, M; Ienco, EC; Mongini, T; Vercelli, L; Primiano, G; Servidei, S; Tonin, P; Scarpelli, M; Toscano, A; Musumeci, O; Moroni, I; Uziel, G; Santorelli, FM; Nesti, C; Filosto, M; Lamperti, C; Zeviani, M; Siciliano, GCittà: 1 (*)
2014 JOURNAL OF NEUROLOGY
The m.3243A > G mitochondrial DNA mutation and related phenotypes. A matter of gender?
Mancuso, M; Orsucci, D; Angelini, C; Bertini, E; Carelli, V; Comi, GP; Donati, A; Minetti, C; Moggio, M; Mongini, T; Servidei, S; Tonin, P; Toscano, A; Uziel, G; Bruno, C; Ienco, EC; Filosto, M; Lamperti, C; Catteruccia, M; Moroni, I; Musumeci, O; Pegoraro, E; Ronchi, D; Santorelli, FM; Sauchelli, D; Scarpelli, M; Sciacco, M; Valentino, ML; Vercelli, L; Zeviani, M; Siciliano, GCittà: 4 (*)
2014 EUROPEAN JOURNAL OF HUMAN GENETICS
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits
Fusco, C; Micale, L; Augello, B; Pellico, MT; Menghini, D; Alfieri, P; Digilio, MC; Mandriani, B; Carella, M; Palumbo, O; Vicari, S; Merla, GCittà: 2 (*)
2014 JOURNAL OF MOLECULAR DIAGNOSTICS
A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis
Grasso, M; Boon, EMJ; Filipovic-Sadic, S; van Bunderen, PA; Gennaro, E; Cao, R; Latham, GJ; Hadd, AG; Coviello, DACittà: 1 (*)
2014 AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSI
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)
Danieli-Betto, D; Esposito, A; Germinario, E; Moggio, M; Morini, E; Peron, S; Sancisi, V; Tomelleri, G; Tupler, RCittà: 2 (*)
2014 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Unusual splice site mutations disrupt FANCA exon 8 definition
Mattioli, C; Pianigiani, G; De Rocco, D; Bianco, AMR; Cappelli, E; Savoia, A; Pagani, FCittà: 2 (*)
2014 NATURE COMMUNICATIONS
A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder
Frankel, LB; Di Malta, C; Wen, JY; Eskelinen, EL; Ballabio, A; Lund, AHCittà: 3 (*)
2014 NATURE MEDICINE
STAT3 signaling controls satellite cell expansion and skeletal muscle repair
Tierney, MT; Aydogdu, T; Sala, D; Malecova, B; Gatto, S; Puri, PL; Latella, L; Sacco, ACittà: 2 (*)
2014 MOLECULAR GENETICS AND METABOLISM
Pharmacological chaperones increase residual beta-galactocerebrosidase activity in fibroblasts from Krabbe patients
Berardi, AS; Pannuzzo, G; Graziano, A; Costantino-Ceccarini, E; Piomboni, P; Luddi, ACittà: 3 (*)
2014 PATHOBIOLOGY
The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect
Monaco, L; Crimi, M; Wang, CMCittà: 2 (*)
2013 BRAIN
ß-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
Hayflick SJ; Kruer MC; Gregory A; Haack TB; Kurian MA; Houlden HH; Anderson J; Boddaert N; Sanford L; Harik SI; Dandu VH; Nardocci N; Zorzi G; Dunaway T; Tarnopolsky M; Skinner S; Holden KR; Frucht S; Hanspal E; Schrander-Stumpel C; Mignot C; Héron D; Saunders DE; Kaminska M; Lin JP; Lascelles K; Cuno SM; Meyer E; Garavaglia B; Bhatia K; de Silva R; Crisp S; Lunt P; Carey M; Hardy J; Meitinger T; Prokisch H; Hogarth PCittà: 17 (*)
2013 NEUROLOGY
Pilot trial of clenbuterol in spinal and bulbar muscular atrophy
Querin G; D'Ascenzo C; Peterle E; Ermani M; Bello L; Melacini P; Morandi L; Mazzini L; Silani V; Raimondi M; Mandrioli J; Romito S; Angelini C; Pegoraro E; Soraru GCittà: 4 (*)
2013 PARKINSONISM & RELATED DISORDERS
Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinsons disease age at onset: Gene and smoking status interaction
Greenbaum, L; Rigbi, A; Lipshtat, N; Cilia, R; Tesei, S; Asselta, R; Djaldetti, R; Goldwurm, S; Lerer, BCittà: 1 (*)
2013 PLOS ONE
Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
Torella, A; Fanin, M; Mutarelli, M; Peterle, E; Blanco, FD; Rispoli, R; Savarese, M; Garofalo, A; Piluso, G; Morandi, L; Ricci, G; Siciliano, G; Angelini, C; Nigro, VCittà: 9 (*)
2013 ORPHANET JOURNAL OF RARE DISEASES
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
Filocamo, M; Baldo, C; Goldwurm, S; Renieri, A; Angelini, C; Moggio, M; Mora, M; Merla, G; Politano, L; Garavaglia, B; Casareto, L; Bricarelli, FD; Telethon Network Genetic BiobanksCittà: 3 (*)
2013 NEUROSCIENCE LETTERS
DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients
Sironi, F; Primignani, P; Ricca, S; Tunesi, S; Zini, M; Tesei, S; Cilia, R; Pezzoli, G; Seia, M; Goldwurm, SCittà: 1 (*)
2013 NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study
Fanin, M; Nascimbeni, AC; Angelini, CCittà: 5 (*)
2013 JOURNAL OF PATHOLOGY
Autocrine and immune cell-derived BDNF in human skeletal muscle: implications for myogenesis and tissue regeneration
Colombo, E; Bedogni, F; Lorenzetti, I; Landsberger, N; Previtali, SC; Farina, CCittà: 2 (*)
2013 BIOCHIMIE
Changes in vimentin, lamin A/C and mitofilin induce aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients
Capanni, C; Bruschi, M; Columbaro, M; Cuccarolo, P; Ravera, S; Dufour, C; Candiano, G; Petretto, A; Degan, P; Cappelli, ECittà: 4 (*)
2013 JOURNAL OF NEUROLOGY
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F
Peterle, E; Fanin, M; Semplicini, C; Padilla, JJV; Nigro, V; Angelini, CCittà: 1 (*)
2013 JOURNAL OF NEUROLOGY
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement
Biancheri, R; Cassandrini, D; Pinto, F; Trovato, R; Di Rocco, M; Mirabelli-Badenier, M; Pedemonte, M; Panicucci, C; Trucks, H; Sander, T; Zara, F; Rossi, A; Striano, P; Minetti, C; Santorelli, FMCittà: 5 (*)
2013 ORPHANET JOURNAL OF RARE DISEASES
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
Yildiz, Y; Hoffmann, P; vom Dahl, S; Breiden, B; Sandhoff, R; Niederau, C; Horwitz, M; Karlsson, S; Filocamo, M; Elstein, D; Beck, M; Sandhoff, K; Mengel, E; Gonzalez, MC; Nothen, MM; Sidransky, E; Zimran, A; Mattheisen, MCittà: 3 (*)
2013 ORPHANET JOURNAL OF RARE DISEASES
Galactosialidosis: review and analysis of CTSA gene mutations
Caciotti, A; Catarzi, S; Tonin, R; Lugli, L; Perez, CR; Michelakakis, H; Mavridou, I; Donati, MA; Guerrini, R; dAzzo, A; Morrone, ACittà: 2 (*)
2013 BIOCHIMIE
Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A
Ravera, S; Vaccaro, D; Cuccarolo, P; Columbaro, M; Capanni, C; Bartolucci, M; Panfoli, I; Morelli, A; Dufour, C; Cappelli, E; Degan, PCittà: 6 (*)
2013 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Novel FAM126A mutations in hypomyelination and congenital cataract disease
2013 BMC MEDICAL GENOMICS
Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kappa B in the pathogenesis of Down syndrome
Granese, B; Scala, I; Spatuzza, C; Valentino, A; Coletta, M; Vacca, RA; De Luca, P; Andria, GCittà: 4 (*)
2013 ORPHANET JOURNAL OF RARE DISEASES
Unfolded protein response in Gaucher disease: from human to Drosophila
Maor, G; Rencus-Lazar, S; Filocamo, M; Steller, H; Segal, D; Horowitz, MCittà: 6 (*)
2013 HUMAN MOLECULAR GENETICS
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Wieczorek, D; Bogershausen, N; Beleggia, F; Steiner-Haldenstatt, S; Pohl, E; Li, Y; Milz, E; Martin, M; Thiele, H; Altmuller, J; Alanay, Y; Kayserili, H; Klein-Hitpass, L; Bohringer, S; Wollstein, A; Albrecht, B; Boduroglu, K; Caliebe, A; Chrzanowska, K; Cogulu, O; Cristofoli, F; Czeschik, JC; Devriendt, K; Dotti, MT; Elcioglu, N; Gener, B; Goecke, TO; Krajewska-Walasek, M; Guillen-Navarro, E; Hayek, J; Houge, G; Kilic, E; Simsek-Kiper, PO; Lopez-Gonzalez, V; Kuechler, A; Lyonnet, S; Mari, F; Marozza, A; Dramard, MM; Mikat, B; Morin, G; Morice-Picard, F; Ozkinay, F; Rauch, A; Renieri, A; Tinschert, S; Utine, GE; Vilain, C; Vivarelli, R; Zweier, C; Nurnberg, P; Rahmann, S; Vermeesch, J; Ludecke, HJ; Zeschnigk, M; Wollnik, BCittà: 19 (*)
2013 MOL THER-NUCL ACIDS
Targeted Myostatin Gene Editing in Multiple Mammalian Species Directed by a Single Pair of TALE Nucleases
Xu, L; Zhao, PM; Mariano, A; Han, RZCittà: 6 (*)
2012 CLINICAL GENETICS
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
Ariani F, Mari F, Amitrano S, Di Marco C, Artuso R, Scala E, Meloni I, Della Volpe R, Rossi A, van Bokhoven H, Renieri A.Città: 1 (*)
2012 BRAIN RESEARCH
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Kleopa, KA; Abrams, CK; Scherer, SSCittà: 14 (*)
2012 NEUROMUSCULAR DISORDERS
Fatigue in muscular dystrophies
Angelini, C; Tasca, ECittà: 4 (*)

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