换一批
换一批Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
作者：
Sara,Nuovo [1]
;
Alessia,Micalizzi [2]
;
Romina,Romaniello [3]
;
Filippo,Arrigoni [4]
;
Monia,Ginevrino [2]
;
Antonella,Casella [5]
;
Valentina,Serpieri [6]
;
Stefano,D'Arrigo [7]
;
Marilena,Briguglio [7]
;
Grazia Gabriella,Salerno [8]
;
Sara,Rossato [9]
;
Stefano,Sartori [10]
;
Vincenzo,Leuzzi [11]
;
Roberta,Battini [12]
;
Bruria,Ben-Zeev [1]
;
Claudio,Graziano [13]
;
Marisol,Mirabelli Badenier [14]
;
Vesna,Brankovic [15]
;
Nardo,Nardocci [16]
;
Ronen,Spiegel [17]
;
Danijela,Petković Ramadža [18]
;
Giovanni,Vento [19]
;
Itxaso,Marti [20]
;
Alessandro,Simonati [21]
;
Savina,Dipresa [22]
;
Elena,Freri [23]
;
Tommaso,Mazza [24]
;
Maria Teresa,Bassi [25]
;
Luca,Bosco [26]
;
Lorena,Travaglini [27]
;
Ginevra,Zanni [28]
;
Enrico Silvio,Bertini [21]
;
Nicola,Vanacore [29]
;
Renato,Borgatti [30]
;
Enza Maria,Valente [31]
作者单位：
Department of Human Neuroscience, Sapienza University of Rome, Roma, Italy.
[1]
Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
[2]
Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
[3]
Neuroimaging Lab, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
[4]
Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Roma, Italy.
[5]
IRCCS Mondino Foundation, Pavia, Italy.
[6]
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
[7]
Department of Developmental Neurology, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy.
[8]
Interdepartmental Program "Autism 0-90", "G. Martino" University Hospital of Messina, Messina, Italy.
[9]
Child Neurology Unit, Department of Paediatrics, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
[10]
U.O.C. Pediatria, Ospedale San Bortolo, Vicenza, Italy.
[11]
Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.
[12]
Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
[13]
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
[14]
Pediatric Neurology Department, The Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Tel Hashomer, Israel.
[15]
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
[16]
Medical Genetics Unit, AOU Policlinico di S. Orsola, Bologna, Italy.
[17]
Fondazione Istituto David Chiossone Onlus, Genova, Italy.
[18]
Child Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto G. Gaslini, Genova, Italy.
[19]
Clinic for Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia.
[20]
Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
[21]
Department of Pediatrics B, Emek Medical Center, Afula, Israel.
[22]
Rappaport School of Medicine, Technion, Haifa, Israel.
[23]
Department of Pediatrics, University Hospital Centre, Zagreb, Croatia.
[24]
Division of Neonatology, Department of Woman and Child Health and Public Health, Child Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Roma, Italy.
[25]
Pediatric Neurology, Hospital Universitario Donostia, Biodonostia, Universidad del País Vasco UPV-EHU, San Sebastian, Spain.
[26]
Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona School of Medicine and Department of Clinical Neuroscience AOUI Verona, Verona, Italy.
[27]
Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Padova, Italy.
[28]
Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy.
[29]
Laboratory of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
[30]
Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Roma, Italy.
[31]
National Center for Disease Prevention and Health Promotion, Italian National Institute of Health, Roma, Italy.
[32]
Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
[33]
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
[34]
IRCCS Mondino Foundation, Pavia, Italy enzamaria.valente@unipv.it.
[35]
主题词
小脑疾病(Cerebellar Diseases);小脑(Cerebellum);女(雌)性(Female);人类(Humans);男(雄)性(Male);突变(Mutation);核蛋白质类(Nuclear Proteins);橄榄体桥脑小脑萎缩(Olivopontocerebellar Atrophies);表型(Phenotype)
DOI
10.1136/jmedgenet-2020-107497
PMID
34085948
发布时间
2022-05-09
- 浏览2
Journal of medical genetics
Journal of medical genetics
399-409页
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