Brunella Franco, MD
Brunella Franco, MD
Federico II University and Telethon Institute of Genetics and Medicine TIGEM, Naples Italy
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Zitiert von
Zitiert von
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
B Franco, S Guioli, A Pragliola, B Incerti, B Bardoni, R Tonlorenzi, ...
Nature 353 (6344), 529-536, 1991
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
AJ Coffey, RA Brooksbank, O Brandau, T Oohashi, GR Howell, JM Bye, ...
Nature genetics 20 (2), 129-135, 1998
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
V Tiranti, K Hoertnagel, R Carrozzo, C Galimberti, M Munaro, ...
The American Journal of Human Genetics 63 (6), 1609-1621, 1998
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
M Carella, L D'ambrosio, A Totaro, A Grifa, MA Valentino, A Piperno, ...
American journal of human genetics 60 (4), 828, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
NA Quaderi, S Schweiger, K Gaudenz, B Franco, EI Rugarli, W Berger, ...
Nature genetics 17 (3), 285-291, 1997
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites
Z Tang, MG Lin, TR Stowe, S Chen, M Zhu, T Stearns, B Franco, Q Zhong
Nature 502 (7470), 254-257, 2013
Identification of the gene for oral-facial-digital type I syndrome
MI Ferrante, SA Feather, A Bulfone, V Wright, M Ghiani, A Selicorni, ...
The American Journal of Human Genetics 68 (3), 569-576, 2001
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
MI Ferrante, A Zullo, A Barra, S Bimonte, N Messaddeq, M Studer, P Dollé, ...
Nature genetics 38 (1), 112-117, 2006
A cluster of sulfatase genes on Xp22. 3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
B Franco, G Meroni, G Parenti, J Levilliers, L Bernard, M Gebbia, L Cox, ...
Cell 81 (1), 15-25, 1995
Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
D Bick, B Franco, RJ Sherins, B Heye, L Pike, J Crawford, A Maddalena, ...
New England Journal of Medicine 326 (26), 1752-1755, 1992
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ...
Nature communications 7 (1), 11491, 2016
Activation of autophagy, observed in liver tissues from patients with Wilson disease and from ATP7B-deficient animals, protects hepatocytes from copper-induced apoptosis
EV Polishchuk, A Merolla, J Lichtmannegger, A Romano, A Indrieri, ...
Gastroenterology 156 (4), 1173-1189. e5, 2019
Oral–facial–digital syndromes: review and diagnostic guidelines
F Gurrieri, B Franco, H Toriello, G Neri
American Journal of Medical Genetics Part A 143 (24), 3314-3323, 2007
Identification and characterization of a novel serine–threonine kinase gene from the Xp22 region
E Montini, G Andolfi, A Caruso, G Buchner, SM Walpole, M Mariani, ...
Genomics 51 (3), 427-433, 1998
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders
C Lin, B Franco, MR Rosner
Human molecular genetics 14 (24), 3775-3786, 2005
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
C Thauvin-Robinet, JS Lee, E Lopez, V Herranz-Pérez, T Shida, B Franco, ...
Nature genetics 46 (8), 905-911, 2014
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
M Toriyama, C Lee, SP Taylor, I Duran, DH Cohn, AL Bruel, JM Tabler, ...
Nature genetics 48 (6), 648-656, 2016
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease
A Indrieri, VA Van Rahden, V Tiranti, M Morleo, D Iaconis, R Tammaro, ...
The American Journal of Human Genetics 91 (5), 942-949, 2012
The dynamic cilium in human diseases
A D'Angelo, B Franco
Pathogenetics 2, 1-15, 2009
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