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Search Results - Delle Vedove, Andrea
Search Results - Delle Vedove, Andrea
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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
by
Delle Vedove, Andrea
,
Storbeck, Markus
,
Heller, Raoul
,
Hölker, Irmgard
,
Hebbar, Malavika
,
Shukla, Anju
,
Magnusson, Olafur
,
Cirak, Sebahattin
,
Girisha, Katta M.
,
O’Driscoll, Mary
,
Loeys, Bart
,
Wirth, Brunhilde
Published in
American journal of human genetics
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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome
by
Salpietro, Vincenzo
,
Lin, Weichun
,
Delle Vedove, Andrea
,
Storbeck, Markus
,
Liu, Yun
,
Efthymiou, Stephanie
,
Manole, Andreea
,
Wiethoff, Sarah
,
Ye, Qiaohong
,
Saggar, Anand
,
McElreavey, Kenneth
,
Krishnakumar, Shyam S.
,
Pitt, Matthew
,
Bello, Oscar D.
,
Rothman, James E.
,
Basel‐Vanagaite, Lina
,
Hubshman, Monika Weisz
,
Aharoni, Sharon
,
Manzur, Adnan Y.
,
Wirth, Brunhilde
,
Houlden, Henry
Published in
Annals of neurology
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Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse
by
Overhoff, Melina
,
Tellkamp, Frederik
,
Hess, Simon
,
Tolve, Marianna
,
Tutas, Janine
,
Faerfers, Marcel
,
Ickert, Lotte
,
Mohammadi, Milad
,
De Bruyckere, Elodie
,
Kallergi, Emmanouela
,
Delle Vedove, Andrea
,
Nikoletopoulou, Vassiliki
,
Wirth, Brunhilde
,
Isensee, Joerg
,
Hucho, Tim
,
Puchkov, Dmytro
,
Isbrandt, Dirk
,
Krueger, Marcus
,
Kloppenburg, Peter
,
Kononenko, Natalia L
Published in
The EMBO journal
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Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies
by
Karakaya, Mert
,
Storbeck, Markus
,
Strathmann, Eike A.
,
Delle Vedove, Andrea
,
Hölker, Irmgard
,
Altmueller, Janine
,
Naghiyeva, Leyla
,
Schmitz‐Steinkrüger, Lea
,
Vezyroglou, Katharina
,
Motameny, Susanne
,
Alawbathani, Salem
,
Thiele, Holger
,
Polat, Ayse Ipek
,
Okur, Derya
,
Boostani, Reza
,
Karimiani, Ehsan Ghayoor
,
Wunderlich, Gilbert
,
Ardicli, Didem
,
Topaloglu, Haluk
,
Kirschner, Janbernd
,
Schrank, Bertold
,
Maroofian, Reza
,
Magnusson, Olafur
,
Yis, Uluc
,
Nürnberg, Peter
,
Heller, Raoul
,
Wirth, Brunhilde
Published in
Human mutation
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Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
by
Delle Vedove, Andrea
,
Storbeck, Markus
,
Heller, Raoul
,
Hölker, Irmgard
,
Hebbar, Malavika
,
Shukla, Anju
,
Magnusson, Olafur
,
Cirak, Sebahattin
,
Girisha, Katta M.
,
O’Driscoll, Mary
,
Loeys, Bart
,
Wirth, Brunhilde
Published in
American journal of human genetics
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PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice
by
Janzen, Eva
,
Wolff, Lisa
,
Mendoza-Ferreira, Natalia
,
Hupperich, Kristina
,
Delle Vedove, Andrea
,
Hosseinibarkooie, Seyyedmohsen
,
Kye, Min Jeong
,
Wirth, Brunhilde
Published in
Frontiers in neuroscience
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Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome
by
Salpietro, Vincenzo
,
Lin, Weichun
,
Delle Vedove, Andrea
,
Storbeck, Markus
,
Liu, Yun
,
Efthymiou, Stephanie
,
Manole, Andreea
,
Wiethoff, Sarah
,
Ye, Qiaohong
,
Saggar, Anand
,
McElreavey, Kenneth
,
Krishnakumar, Shyam S.
,
Pitt, Matthew
,
Bello, Oscar D.
,
Rothman, James E.
,
Basel‐Vanagaite, Lina
,
Hubshman, Monika Weisz
,
Aharoni, Sharon
,
Manzur, Adnan Y.
,
Wirth, Brunhilde
,
Houlden, Henry
Published in
Annals of neurology
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CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia
by
Delle Vedove, Andrea
,
Natarajan, Janani
,
Zanni, Ginevra
,
Eckenweiler, Matthias
,
Muiños-Bühl, Anixa
,
Storbeck, Markus
,
Guillén Boixet, Jordina
,
Barresi, Sabina
,
Pizzi, Simone
,
Hölker, Irmgard
,
Körber, Friederike
,
Franzmann, Titus M.
,
Bertini, Enrico S.
,
Kirschner, Janbernd
,
Alberti, Simon
,
Tartaglia, Marco
,
Wirth, Brunhilde
Published in
Cellular and molecular life sciences : CMLS
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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
by
Pavinato, Lisa
,
Delle Vedove, Andrea
,
Carli, Diana
,
Ferrero, Marta
,
Carestiato, Silvia
,
Howe, Jennifer L
,
Agolini, Emanuele
,
Coviello, Domenico A
,
van de Laar, Ingrid
,
Au, Ping Yee Billie
,
Di Gregorio, Eleonora
,
Fabbiani, Alessandra
,
Croci, Susanna
,
Mencarelli, Maria Antonietta
,
Bruno, Lucia P
,
Renieri, Alessandra
,
Veltra, Danai
,
Sofocleous, Christalena
,
Faivre, Laurence
,
Mazel, Benoit
,
Safraou, Hana
,
Denommé-Pichon, Anne-Sophie
,
van Slegtenhorst, Marjon A
,
Giesbertz, Noor
,
van Jaarsveld, Richard H
,
Childers, Anna
,
Rogers, R Curtis
,
Novelli, Antonio
,
De Rubeis, Silvia
,
Buxbaum, Joseph D
,
Scherer, Stephen W
,
Ferrero, Giovanni Battista
,
Wirth, Brunhilde
,
Brusco, Alfredo
Published in
Brain (London, England : 1878)
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A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73
by
Eisenberger, Tobias
,
Di Donato, Nataliya
,
Decker, Christian
,
Delle Vedove, Andrea
,
Neuhaus, Christine
,
Nürnberg, Gudrun
,
Toliat, Mohammad
,
Nürnberg, Peter
,
Mürbe, Dirk
,
Bolz, Hanno Jörn
Published in
Genetics in medicine
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A Methodologically Updated De-Novo Extraction of Copy Number Signatures in Multiple Myeloma: Clinical Significance and Putative Aetiologies
by
Poletti, Andrea
,
Delle Vedove, Stafano
,
Mazzocchetti, Gaia
,
Solli, Vincenza
,
Kanapari, Ajsi
,
Borsi, Enrica
,
Martello, Marina
,
Martinelli, Giovanni
,
Armuzzi, Silvia
,
Vigliotta, Ilaria
,
Taurisano, Barbara
,
Pistis, Ignazia
,
Zamagni, Elena
,
Cavo, Michele
,
Terragna, Carolina
Published in
Blood
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Physician–patient communication and patient‐reported outcomes in the actinic keratosis treatment adherence initiative (AK‐TRAIN): a multicenter, prospective, real‐life study of tre...
by
Neri, L.
,
Peris, K.
,
Longo, C.
,
Calvieri, S.
,
Frascione, P.
,
Parodi, A.
,
Eibenschuz, L.
,
Bottoni, U.
,
Pellacani, G.
,
Ayala, Fabio
,
Quaglino, Pietro
,
Cannavò, Serafinella
,
Rubegni, Pietro
,
Ferreli, Caterina
,
Girolomoni, Gianpiero
,
Bongiorno, Maria Rita
,
Potenza, Concetta
,
Micali, Giuseppe
,
Pimpinelli, Nicola
,
Romanelli, Marco
,
Stanganelli, Ignazio
,
Bonamonte, Domenico
,
Peserico, Andrea
,
Fargnoli, Maria Concetta
,
Pinton, Piergiacomo Calzavara
,
Costanzo, Domenico
,
Cantisani, Carmen
,
Borsari, Stefania
,
Ricci, Francesco
,
Izzi, Sara
,
Chiara, Franceschini
,
Cozzani, Emanuele
,
Carboni, Anna
,
Amoruso, Giuseppe F.
,
Dastoli, Stefano
,
Scalvenzi, Massimiliano
,
Deboli, Tommaso
,
Francesco, Borgia
,
Casari, Alice
,
Nami, Nicolò
,
Ferreli, Caterina
,
Camilla Delle Vedove, Chiara Sabbatini ‐
,
Viola, La
,
La Carrubba, Francesco
,
Grandi, Vieri
,
Dini, Valentina
,
Mazzoni, Laura
,
Vestita, Michelangelo la
,
Fabiano, Antonella
,
Zane, Cristina
,
Orsini, Diego
Published in
Journal of the European Academy of Dermatology and Venereology
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