Joubert syndrome: congenital cerebellar ataxia with the molar tooth
Romani, Marta, PhD, Micalizzi, Alessia, BSc, Valente, Enza Maria, Prof
Published in Lancet neurology (01.09.2013)
Published in Lancet neurology (01.09.2013)
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Journal Article
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models
Petrucci, Simona, Ginevrino, Monia, Valente, Enza Maria
Published in Parkinsonism & related disorders (01.01.2016)
Published in Parkinsonism & related disorders (01.01.2016)
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PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation
Gelmetti, Vania, De Rosa, Priscilla, Torosantucci, Liliana, Marini, Elettra Sara, Romagnoli, Alessandra, Di Rienzo, Martina, Arena, Giuseppe, Vignone, Domenico, Fimia, Gian Maria, Valente, Enza Maria
Published in Autophagy (03.04.2017)
Published in Autophagy (03.04.2017)
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Journal Article
Primary cilia in neurodevelopmental disorders
Valente, Enza Maria, Rosti, Rasim O., Gibbs, Elizabeth, Gleeson, Joseph G.
Published in Nature reviews. Neurology (01.01.2014)
Published in Nature reviews. Neurology (01.01.2014)
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Journal Article
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism
Borsche, Max, König, Inke R, Delcambre, Sylvie, Petrucci, Simona, Balck, Alexander, Brüggemann, Norbert, Zimprich, Alexander, Wasner, Kobi, Pereira, Sandro L, Avenali, Micol, Deuschle, Christian, Badanjak, Katja, Ghelfi, Jenny, Gasser, Thomas, Kasten, Meike, Rosenstiel, Philip, Lohmann, Katja, Brockmann, Kathrin, Valente, Enza Maria, Youle, Richard J, Grünewald, Anne, Klein, Christine
Published in Brain (London, England : 1878) (01.10.2020)
Published in Brain (London, England : 1878) (01.10.2020)
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Journal Article
Joubert Syndrome and related disorders
Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria
Published in Orphanet journal of rare diseases (08.07.2010)
Published in Orphanet journal of rare diseases (08.07.2010)
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Journal Article
RFC1 expansions are a common cause of idiopathic sensory neuropathy
Currò, Riccardo, Salvalaggio, Alessandro, Tozza, Stefano, Gemelli, Chiara, Dominik, Natalia, Galassi Deforie, Valentina, Magrinelli, Francesca, Castellani, Francesca, Vegezzi, Elisa, Businaro, Pietro, Callegari, Ilaria, Pichiecchio, Anna, Cosentino, Giuseppe, Alfonsi, Enrico, Marchioni, Enrico, Colnaghi, Silvia, Gana, Simone, Valente, Enza Maria, Tassorelli, Cristina, Efthymiou, Stephanie, Facchini, Stefano, Carr, Aisling, Laura, Matilde, Rossor, Alexander M, Manji, Hadi, Lunn, Michael P, Pegoraro, Elena, Santoro, Lucio, Grandis, Marina, Bellone, Emilia, Beauchamp, Nicholas J, Hadjivassiliou, Marios, Kaski, Diego, Bronstein, Adolfo M, Houlden, Henry, Reilly, Mary M, Mandich, Paola, Schenone, Angelo, Manganelli, Fiore, Briani, Chiara, Cortese, Andrea
Published in Brain (London, England : 1878) (22.06.2021)
Published in Brain (London, England : 1878) (22.06.2021)
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Journal Article
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
POLITANO, Davide, GANA, Simone, PEZZOTTI, Elena, BERARDINELLI, Angela, PASCA, Ludovica, Carmen BARBERO, Veronica, PICHIECCHIO, Anna, Maria VALENTE, Enza, ERRICHIELLO, Edoardo
Published in Brain & development (Tokyo. 1979) (01.03.2023)
Published in Brain & development (Tokyo. 1979) (01.03.2023)
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Journal Article
Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease
Imarisio, Alberto, Yahyavi, Isar, Avenali, Micol, Di Maio, Anna, Buongarzone, Gabriele, Galandra, Caterina, Picascia, Marta, Filosa, Asia, Gasparri, Clara, Monti, Maria Cristina, Rondanelli, Mariangela, Pacchetti, Claudio, Errico, Francesco, Valente, Enza Maria, Usiello, Alessandro
Published in Neurobiology of disease (01.03.2024)
Published in Neurobiology of disease (01.03.2024)
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Journal Article
An SCN9A channelopathy causes congenital inability to experience pain
Reimann, Frank, McHale, Duncan P, Valente, Enza Maria, Jafri, Hussain, Al-Gazali, Lihadh, Gribble, Fiona M, Thornton, Gemma, Gorman, Shaun, Williams, Richard, Wood, John N, Nicholas, Adeline K, Roberts, Emma, Mannan, Jovaria, Springell, Kelly, Woods, C. Geoffrey, Cox, James J, Raashid, Yasmin, Karbani, Gulshan, Hamamy, Henan
Published in Nature (14.12.2006)
Published in Nature (14.12.2006)
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Journal Article
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey
Published in Journal of medical genetics (01.08.2016)
Published in Journal of medical genetics (01.08.2016)
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Journal Article
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone
Li, Chunmei, Jensen, Victor L, Park, Kwangjin, Kennedy, Julie, Garcia-Gonzalo, Francesc R, Romani, Marta, De Mori, Roberta, Bruel, Ange-Line, Gaillard, Dominique, Doray, Bérénice, Lopez, Estelle, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel, Reiter, Jeremy F, Blacque, Oliver E, Valente, Enza Maria, Leroux, Michel R
Published in PLoS biology (16.03.2016)
Published in PLoS biology (16.03.2016)
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Journal Article
GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson's Disease
Cerri, Silvia, Ghezzi, Cristina, Ongari, Gerardo, Croce, Stefania, Avenali, Micol, Zangaglia, Roberta, Di Monte, Donato A, Valente, Enza Maria, Blandini, Fabio
Published in International journal of molecular sciences (23.02.2021)
Published in International journal of molecular sciences (23.02.2021)
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Journal Article
Mutations in INPP5E , encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Al-Gazali, Lihadh, Silhavy, Jennifer L, Kayserili, Hulya, Fazzi, Elisa, Bertini, Enrico, Bayoumi, Riad A, Abdel-Aleem, Alice, Travaglini, Lorena, Valente, Enza Maria, Gleeson, Joseph G, Field, Seth J, Sztriha, Laszlo, Boltshauser, Eugen, Majerus, Philip W, Brancati, Francesco, Schurmans, Stephane, Scott, Lesley C, Gayral, Stephanie, Jacoby, Monique, Dallapiccola, Bruno, Bielas, Stephanie L, Kisseleva, Marina V, Rosti, Rasim Ozgur, Swistun, Dominika, Zaki, Maha S
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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