Editorial: Improving medical diagnosis in rare diseases by Natália Duarte Linhares, Kathleen M Gorman, Kathleen M Gorman, Alfredo Brusco, Alfredo Brusco

Get full text

Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia by Stefania Squadrone, Paola Brizio, Cecilia Mancini, Elisa Pozzi, Simona Cavalieri, Maria Cesarina Abete, Alfredo Brusco

Get full text

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM) by Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta

Get full text

The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders by Carla Liaci, Lucia Prandi, Lisa Pavinato, Alfredo Brusco, Mara Maldotti, Ivan Molineris, Salvatore Oliviero, Giorgio R. Merlo

Get full text

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review by Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, Diana Carli, Lisa Pavinato, Geoffroy Delplancq, Paul Kuentz, Alfredo Brusco

Get full text

Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study by Elisa Rubino, Silvia Boschi, Elisa Giorgio, Elisa Pozzi, Andrea Marcinnò, Erica Gallo, Fausto Roveta, Alberto Grassini, Alfredo Brusco, Innocenzo Rainero

Get full text

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism by Laura Cristina Gironi, Enrico Colombo, Alfredo Brusco, Enrico Grosso, Valeria Giorgia Naretto, Andrea Guala, Eleonora Di Gregorio, Andrea Zonta, Francesca Zottarelli, Barbara Pasini, Paola Savoia

Get full text

Overexpression of CD157 contributes to epithelial ovarian cancer progression by promoting mesenchymal differentiation. by Simona Morone, Nicola Lo-Buono, Rossella Parrotta, Alice Giacomino, Giulia Nacci, Alfredo Brusco, Alexey Larionov, Paola Ostano, Maurizia Mello-Grand, Giovanna Chiorino, Erika Ortolan, Ada Funaro

Get full text

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 by Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Alfredo Brusco, Mary B. Davis, Paola Giunti

Get full text

<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity by Lisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, Silvia De Rubeis, Joseph Buxbaum, Cecilia Mancini, Alessandro Bruselles, Marco Tartaglia, Mauro Pessia, Stephen J. Tucker, Maria Cristina D’Adamo, Alfredo Brusco

Get full text

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy by Vincenzo Antona, Federica Scalia, Elisa Giorgio, Francesca C. Radio, Alfredo Brusco, Massimiliano Oliveri, Giovanni Corsello, Fabrizio Lo Celso, Maria Vadalà, Everly Conway de Macario, Alberto J. L. Macario, Francesco Cappello, Mario Giuffrè

Get full text

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice by Eriola Hoxha, Eriola Hoxha, Rebecca M. C. Gabriele, Ilaria Balbo, Francesco Ravera, Linda Masante, Vanessa Zambelli, Cristian Albergo, Nico Mitro, Donatella Caruso, Eleonora Di Gregorio, Alfredo Brusco, Barbara Borroni, Filippo Tempia, Filippo Tempia, Filippo Tempia

Get full text

MEK Inhibition in a Newborn with <i>RAF1</i>-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease by Alessandro Mussa, Diana Carli, Elisa Giorgio, Anna Maria Villar, Simona Cardaropoli, Caterina Carbonara, Maria Francesca Campagnoli, Paolo Galletto, Martina Palumbo, Simone Olivieri, Claudio Isella, Gregor Andelfinger, Marco Tartaglia, Giovanni Botta, Alfredo Brusco, Enzo Medico, Giovanni Battista Ferrero

Get full text

P657: NSD2 duplication results in distinct phenotype and DNA methylation signature by Benjamin Hilton, Bekim Sadikovic, Alfredo Brusco, Giovanni Battista Ferrero, Barbara DuPont, Matthew Tedder, Raymond Louie, Nikhil Sahajpal, Erica Andersen, Zoe Lewis, Amanda Openshaw, Jennifer Kerkhof, Haley McConkey, Raissa Relator, Sadegheh Haghshenas, Jack Reilly, Kathleen Rooney

Get full text

Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders by Annalisa Alfieri, Oksana Sorokina, Annie Adrait, Annie Adrait, Annie Adrait, Costanza Angelini, Isabella Russo, Alessandro Morellato, Michela Matteoli, Michela Matteoli, Elisabetta Menna, Elisabetta Menna, Elisabetta Boeri Erba, Elisabetta Boeri Erba, Elisabetta Boeri Erba, Colin McLean, J. Douglas Armstrong, Ugo Ala, Ugo Ala, Joseph D. Buxbaum, Joseph D. Buxbaum, Joseph D. Buxbaum, Joseph D. Buxbaum, Joseph D. Buxbaum, Joseph D. Buxbaum, Alfredo Brusco, Alfredo Brusco, Yohann Couté, Yohann Couté, Yohann Couté, Silvia De Rubeis, Silvia De Rubeis, Emilia Turco, Paola Defilippi

Get full text

CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity by Barbara A Perez, Hannah K Shorrock, Monica Banez‐Coronel, Tao Zu, Lisa EL Romano, Lauren A Laboissonniere, Tammy Reid, Yoshio Ikeda, Kaalak Reddy, Christopher M Gomez, Thomas Bird, Tetsuo Ashizawa, Lawrence J Schut, Alfredo Brusco, J Andrew Berglund, Lis F Hasholt, Jorgen E Nielsen, SH Subramony, Laura PW Ranum

Get full text

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation by Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann

Get full text

Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation by Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann

Get full text

Missense variant contribution to USP9X-female syndrome by Lachlan A. Jolly, Euan Parnell, Alison E. Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C. Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M. White, Martin B. Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A. Wood, Michael Piper, Peter Penzes, Jozef Gecz

Get full text

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. by Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi

Get full text