Enza M. Valente < Enza Maria Valente < Enza-Maria Valente

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 23.
[0-20] [0 - 20][0 - 23][20-22][20-40]

Ident.	Authors (with country if any)	Title
000406 (2014)	Lucia Ricciardi [Italie] ; Simona Petrucci ; Arianna Guidubaldi ; Tamara Ialongo ; Laura Serra ; Alessandro Ferraris ; Barbara Span ; Marco Bozzali ; Enza Maria Valente ; Anna Rita Bentivoglio	Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.
000638 (2014)	Katja Lohmann [Allemagne] ; Alexander Schmidt ; Arne Schillert ; Susen Winkler ; Alberto Albanese ; Frank Baas ; Anna Rita Bentivoglio ; Friederike Borngr Ber ; Norbert Brüggemann ; Giovanni Defazio ; Francesca Del Sorbo ; Günther Deuschl ; Mark J. Edwards ; Thomas Gasser ; Pilar G Mez-Garre ; Julia Graf ; Justus L. Groen ; Anne Grünewald ; Johann Hagenah ; Claudia Hemmelmann ; Hans-Christian Jabusch ; Ryuji Kaji ; Meike Kasten ; Hideshi Kawakami ; Vladimir S. Kostic ; Maria Liguori ; Pablo Mir ; Alexander Münchau ; Felicia Ricchiuti ; Stefan Schreiber ; Katharina Siegesmund ; Marina Svetel ; Marina A J. Tijssen ; Enza Maria Valente ; Ana Westenberger ; Kirsten E. Zeuner ; Simone Zittel ; Eckart Altenmüller ; Andreas Ziegler ; Christine Klein	Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
000684 (2014)	Graziella Madeo [Italie] ; Tommaso Schirinzi ; Giuseppina Martella ; E Claudio Latagliata ; Francesca Puglisi ; Jie Shen ; Enza Maria Valente ; Mauro Federici ; Nicola B. Mercuri ; Stefano Puglisi-Allegra ; Paola Bonsi ; Antonio Pisani	PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity.
000797 (2013)	Michael G. Heckman [États-Unis] ; Alexandra I. Soto-Ortolaza ; Jan O. Aasly ; Nadine Abahuni ; Grazia Annesi ; Justin A. Bacon ; Soraya Bardien ; Maria Bozi ; Alexis Brice ; Laura Brighina ; Jonathan Carr ; Marie-Christine Chartier-Harlin ; Efthimios Dardiotis ; Dennis W. Dickson ; Nancy N. Diehl ; Alexis Elbaz ; Carlo Ferrarese ; Brian Fiske ; J Mark Gibson ; Rachel Gibson ; Georgios M. Hadjigeorgiou ; Nobutaka Hattori ; John P A. Ioannidis ; Magdalena Boczarska-Jedynak ; Barbara Jasinska-Myga ; Beom S. Jeon ; Yun Joong Kim ; Christine Klein ; Rejko Kruger ; Elli Kyratzi ; Suzanne Lesage ; Chin-Hsien Lin ; Timothy Lynch ; Demetrius M. Maraganore ; George D. Mellick ; Eugénie Mutez ; Christer Nilsson ; Grzegorz Opala ; Sung Sup Park ; Simona Petrucci ; Andreas Puschmann ; Aldo Quattrone ; Manu Sharma ; Peter A. Silburn ; Young Ho Sohn ; Leonidas Stefanis ; Vera Tadic ; Jessie Theuns ; Hiroyuki Tomiyama ; Ryan J. Uitti ; Enza Maria Valente ; Christine Van Broeckhoven ; Simone Van De Loo ; Demetrios K. Vassilatis ; Carles Vilari O-Güell ; Linda R. White ; Karin Wirdefeldt ; Zbigniew K. Wszolek ; Ruey-Meei Wu ; Faycal Hentati ; Matthew J. Farrer ; Owen A. Ross	Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.
000883 (2013)	Antonio E. Elia [Italie] ; Simona Petrucci ; Alfonso Fasano ; Marco Guidi ; Stefano Valbonesi ; Laura Bernardini ; Federica Consoli ; Alessandro Ferraris ; Alberto Albanese ; Enza Maria Valente	Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.
000903 (2013)	Miryam Carecchio [Royaume-Uni] ; Monia Magliozzi ; Massimiliano Copetti ; Alessandro Ferraris ; Laura Bernardini ; Monica Bonetti ; Giovanni Defazio ; Mark J. Edwards ; Isabella Torrente ; Fabio Pellegrini ; Cristoforo Comi ; Kailash P. Bhatia ; Enza Maria Valente	Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
000953 (2013)	Simona Petrucci [Italie] ; Enza Maria Valente	Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia.
000A38 (2013)	Maja Kojovic [Royaume-Uni] ; Isabel Pareés ; Tania Lampreia ; Karolina Pienczk-Reclawowicz ; Georgia Xiromerisiou ; Ignacio Rubio-Agusti ; Milica Kramberger ; Miryam Carecchio ; Anas M. Alazami ; Francesco Brancati ; Jaroslaw Slawek ; Zvezdan Pirtosek ; Enza Maria Valente ; Fowzan S. Alkuraya ; Mark J. Edwards ; Kailash P. Bhatia	The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
000E01 (2012)	Vinko Palada ; Sandra Stiern ; Nicola Glöckle ; Pilar G Mez-Garre ; Fatima Carrillo ; Pablo Mir ; Krzysztof Szczaluba ; Michele Tinazzi ; Domenico Ajena ; Marta Romani ; Enza Maria Valente ; Ulrich Müller ; Peter Bauer ; Olaf Riess ; Thomas Ott ; Kathrin Grundmann	Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
001A83 (2009)	Monica Bonetti [Italie] ; Chiara Barzaghi ; Francesco Brancati ; Alessandro Ferraris ; Emanuele Bellacchio ; Alessandro Giovanetti ; Tamara Ialongo ; Giovanna Zorzi ; Carla Piano ; Martina Petracca ; Alberto Albanese ; Nardo Nardocci ; Bruno Dallapiccola ; Anna Rita Bentivoglio ; Barbara Garavaglia ; Enza Maria Valente	Mutation screening of the DYT6/THAP1 gene in Italy.
001B07 (2009)	Alessandro Ferraris [Italie] ; Tamara Ialongo ; Giulio Cesare Passali ; Maria Teresa Pellecchia ; Livia Brusa ; Marianna Laruffa ; Arianna Guidubaldi ; Gaetano Paludetti ; Alberto Albanese ; Paolo Barone ; Bruno Dallapiccola ; Enza Maria Valente ; Anna Rita Bentivoglio	Olfactory dysfunction in Parkinsonism caused by PINK1 mutations.
001C39 (2009)	Monica Bonetti ; Alessandro Ferraris ; Martina Petracca ; Anna Rita Bentivoglio ; Bruno Dallapiccola ; Enza Maria Valente	GIGYF2 variants are not associated with Parkinson's disease in Italy.
002114 (2008)	Vasiliki Koukouni [Royaume-Uni] ; Enza Maria Valente ; Carla Cordivari ; Kailash P. Bhatia ; Niall P. Quinn	Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.
002305 (2008)	Vania Gelmetti [Italie] ; Alessandro Ferraris ; Livia Brusa ; Francesca Romano ; Federica Lombardi ; Chiara Barzaghi ; Paolo Stanzione ; Barbara Garavaglia ; Bruno Dallapiccola ; Enza Maria Valente	Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study.
002499 (2007)	Oronzo Scarciolla [Italie] ; Francesco Brancati ; Enza Maria Valente ; Alessandro Ferraris ; Maria Vittoria De Angelis ; Stefano Valbonesi ; Barbara Garavaglia ; Antonino Uncini ; Giandomenico Palka ; Liborio Stuppia ; Bruno Dallapiccola	Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.
002972 (2007)	Jordi Clarimon [États-Unis] ; Francesco Brancati ; Elizabeth Peckham ; Enza Maria Valente ; Bruno Dallapiccola ; Giovanni Abruzzese ; Paolo Girlanda ; Giovanni Defazio ; Alfredo Berardelli ; Mark Hallett ; Andrew B. Singleton	Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
002B34 (2006)	Mattia Gambarin [Italie] ; Enza Maria Valente ; Paolo Liberini ; Giuseppe Barrano ; Alberto Bonizzato ; Alessandro Padovani ; Giuseppe Moretto ; Mirta Fiorio ; Bruno Dallapiccola ; Nicola Smania ; Antonio Fiaschi ; Michele Tinazzi	Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
002C43 (2006)	Chiara Criscuolo [Italie] ; Giampiero Volpe ; Anna De Rosa ; Andrea Varrone ; Roberta Marongiu ; Pietro Mancini ; Elena Salvatore ; Bruno Dallapiccola ; Alessandro Filla ; Enza Maria Valente ; Giuseppe De Michele	PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
002C88 (2006)	Roberta Marongiu [Italie] ; Daniele Ghezzi ; Tamara Ialongo ; Francesco Soleti ; Antonio Elia ; Stefania Cavone ; Alberto Albanese ; Maria Concetta Altavista ; Paolo Barone ; Livia Brusa ; Pietro Cortelli ; Lucia Petrozzi ; Cesa Scaglione ; Paolo Stanzione ; Michele Tinazzi ; Massimo Zeviani ; Bruno Dallapiccola ; Anna Rita Bentivoglio ; Enza Maria Valente ; Barbara Garavaglia	Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
003271 (2005)	Giovanni Fabbrini [Italie] ; Francesco Brancati ; Laura Vacca ; Enza Maria Valente ; Andrea Nemeth ; Angela Meesaq ; Nuala Sykes ; Bruno Dallapiccola ; Alfredo Berardelli	A novel family with an unusual early-onset generalized dystonia.
003427 (2004)	Laura Cif [France] ; Enza Maria Valente ; Simone Hemm ; Christine Coubes ; Nathalie Vayssiere ; Stéphanie Serrat ; Annalisa Di Giorgio ; Philippe Coubes	Deep brain stimulation in myoclonus-dystonia syndrome.

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