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المؤلفون: Antonella Casella, Enza Maria Valente, Vincenzo Nigro, V. Brankovic, Caterina Caputi, Vincenzo Leuzzi, Sara Nuovo
المساهمون: Nuovo, S., Brankovic, V., Caputi, C., Casella, A., Nigro, V., Leuzzi, V., Valente, E. M.
المصدر: American Journal of Medical Genetics Part A. 185:1575-1581
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Developmental Disabilitie, Genes, Recessive, RhoGAP domain, 030105 genetics & heredity, Biology, Nervous System Malformation, 03 medical and health sciences, Neurodevelopmental disorder, Cerebellum, Intellectual Disability, Neurodevelopmental Disorder, Intellectual disability, Cytoskeletal Protein, Genetics, medicine, Missense mutation, Genetic Predisposition to Disease, Allele, Child, Cerebellar hypoplasia, allelic spectrum, Genetics (clinical), Loss function, proline-rich domain, Nuclear Protein, GTPase-Activating Protein, BAR domain, oligophrenin, OPHN1, High-Throughput Nucleotide Sequencing, Infant, Genetic Diseases, X-Linked, medicine.disease, Pedigree, 3. Good health, 030104 developmental biology, Child, Preschool, Female, Human, Ventriculomegaly
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المؤلفون: Eleonora Lacorte, Nicola Vanacore, Guido Bellomo, Massimo Corbo, Paola Piscopo, Sara Nuovo
المصدر: Cerebellum (London, England)
Cerebellumمصطلحات موضوعية: Isi web of science, Technology, 030506 rehabilitation, medicine.medical_specialty, Ataxia, Databases, Factual, Inclusion (disability rights), medicine.medical_treatment, media_common.quotation_subject, Video games, 03 medical and health sciences, Mobile applications, 0302 clinical medicine, Physical medicine and rehabilitation, Quality of life, medicine, Humans, Quality (business), media_common, Rehabilitation, business.industry, Hereditary Ataxias, Treatment Outcome, Neurology, Meta-analysis, Systematic review, Quality of Life, Original Article, Neurology (clinical), medicine.symptom, 0305 other medical science, business, 030217 neurology & neurosurgery
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المؤلفون: Maria Teresa Bonati, Maria Teresa Dotti, Isabella Moroni, Roberta Battini, Renato Borgatti, Marilena Briguglio, Livio Provenzi, Chiara Gagliardi, Sara Nuovo, Margherita Santucci, Enrico Bertini, Franco Stanzial, Sabrina Signorini, Romina Romaniello, Patrizia Desalvo, Claudio Macaluso, Stefano D'Arrigo, Enza Maria Valente, Lucio Giordano
مصطلحات موضوعية: Adult, 030506 rehabilitation, medicine.medical_treatment, rare disease, Retina, Joubert syndrome, Disability Evaluation, 03 medical and health sciences, Social support, 0302 clinical medicine, Neurodevelopmental disorder, International Classification of Functioning, Disability and Health, Developmental disability, genetic syndrome, international classification of functioning, joubert syndrome, Cerebellum, medicine, Humans, Settore M-PSI/01 - PSICOLOGIA GENERALE, Abnormalities, Multiple, Eye Abnormalities, Rehabilitation, Cognition, Kidney Diseases, Cystic, Social engagement, medicine.disease, Life course approach, 0305 other medical science, Psychology, 030217 neurology & neurosurgery, Clinical psychology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d2534cb890d6fe4883d5968a52b9af3
http://hdl.handle.net/11568/1115928 -
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المؤلفون: Romina Romaniello, Enrico Bertini, Lino Nobili, Renato Borgatti, Chiara Pepi, Claudio Zucca, Angela Pistorio, Sara Nuovo, Elisa De Grandis, Maria Margherita Mancardi, Sara Uccella, Mariasavina Severino, Pasquale Striano, Enza Maria Valente, Roberta Battini, Ginevra Zanni, Thea Giacomini, Giulia Prato, Raffaella Cusmai, Annarita Ferrari, Livia Pisciotta
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Microcephaly, Developmental delay, Developmental Disabilities, Electroencephalography, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Atrophy, CASK pathogenic Variants, 030225 pediatrics, Late-onset spasms, Intellectual disability, Spindles abnormalities, medicine, Humans, Child, Preschool, Cerebellar hypoplasia, Retrospective Studies, Brain Diseases, medicine.diagnostic_test, business.industry, Infant, Child, Preschool, Female, Guanylate Kinases, Mutation, General Medicine, medicine.disease, Comorbidity, 3. Good health, Pediatrics, Perinatology and Child Health, Cohort, Neurology (clinical), business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d8e82a16420721e108e1cbb62cb1f3d
http://hdl.handle.net/11567/1041802 -
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المؤلفون: Monia Ginevrino, Antonella Casella, Alessia Micalizzi, Danila Anello, Giulia Federici, Manuela Tolve, Caterina Caputi, Carla Carducci, Donatella Farini, Valentina Baglioni, Roberta De Mori, Elisa Lorefice, Ginevra Zanni, Vincenzo Leuzzi, Silvia Tardivo, Enrico Bertini, Laura Masuelli, Sara Nuovo, Claudio Sette, Gessica Vasco, Enza Maria Valente, Lorena Travaglini
مصطلحات موضوعية: Cerebellum, Pathology, medicine.medical_specialty, Ataxia, Genotype, BRAT1, NEDCAS, non progressive congenital ataxia, phenotypic discordance, splicing variant, Biology, nonprogressive congenital ataxia, Neurodevelopmental disorder, Seizures, Genetics, medicine, Humans, Genetic Association Studies, Genetics (clinical), Exome sequencing, Settore BIO/16 - ANATOMIA UMANA, medicine.diagnostic_test, Nuclear Proteins, medicine.disease, Phenotype, medicine.anatomical_structure, Settore MED/03, Mutation, Skin biopsy, Cerebellar atrophy, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7e7fb245e239466af33b5cd3c14de47
http://hdl.handle.net/11573/1617361 -
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المؤلفون: Valentina, Serpieri, Fulvio, D'Abrusco, Jennifer C, Dempsey, Yong-Han Hank, Cheng, Filippo, Arrigoni, Janice, Baker, Roberta, Battini, Enrico Silvio, Bertini, Renato, Borgatti, Angela K, Christman, Cynthia, Curry, Stefano, D'Arrigo, Joel, Fluss, Michael, Freilinger, Simone, Gana, Gisele E, Ishak, Vincenzo, Leuzzi, Hailey, Loucks, Filippo, Manti, Nancy, Mendelsohn, Laura, Merlini, Caitlin V, Miller, Ansar, Muhammad, Sara, Nuovo, Romina, Romaniello, Wolfgang, Schmidt, Sabrina, Signorini, Sabrina, Siliquini, Krzysztof, Szczałuba, Gessica, Vasco, Meredith, Wilson, Ginevra, Zanni, Eugen, Boltshauser, Dan, Doherty, Enza Maria, Valente, X, Zhang
المساهمون: University of Washington Center for Mendelian Genomics (UW-CMG) group, Bamshad, M.J., Leal, S.M., Nickerson, D.A., Anderson, P., Bacus, T.J., Blue, E.E., Brower, K., Buckingham, K.J., Chong, J.X., Cornejo Sánchez, D., Davis, C.P., Davis, C.J., Frazar, C.D., Gomeztagle-Burgess, K., Gordon, W.W., Horike-Pyne, M., Hurless, J.R., Jarvik, G.P., Johanson, E., Kolar, J.T., Marvin, C.T., McGee, S., McGoldrick, D.J., Mekonnen, B., Nielsen, P.M., Patterson, K., Radhakrishnan, A., Richardson, M.A., Roote, G.T., Ryke, E.L., Schrauwen, I., Shively, K.M., Smith, J.D., Tackett, M., Wang, G., Weiss, J.M., Wheeler, M.M., Yi, Q., Zhang, X.
المصدر: Journal of medical genetics, vol. 59, no. 9, pp. 888-894
مصطلحات موضوعية: Male, Proband, Pediatrics, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Cerebellar dysplasia, cerebellar diseases, Haploinsufficiency, Abnormalities, Multiple/genetics, Cerebellar Ataxia/genetics, Cerebellum/abnormalities, Cerebellum/diagnostic imaging, Eye Abnormalities/genetics, Haploinsufficiency/genetics, Humans, Intellectual Disability/genetics, Kidney Diseases, Cystic/diagnosis, Kidney Diseases, Cystic/genetics, Phenotype, Repressor Proteins/genetics, Retina/abnormalities, and neonatal diseases and abnormalities, central nervous system diseases, congenital, early diagnosis, genetic variation, hereditary, Retina, Joubert syndrome, neonatal diseases and abnormalities, Cerebellum, Intellectual Disability, Genetics, medicine, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), business.industry, Kidney Diseases, Cystic, medicine.disease, Penetrance, Hypotonia, Repressor Proteins, Ciliopathy, medicine.symptom, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc739ec43b16294432e6c486a220ed30
http://hdl.handle.net/11573/1582161 -
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المؤلفون: Francesco Emma, Vincenzo Leuzzi, L. Fuiano, Elisa Fazzi, Enrico Bertini, Gilda Stringini, Gian Marco Ghiggeri, Gianluca Caridi, Marta Romani, Rita Fischetto, Ginevra Zanni, Sabrina Signorini, Roberta Battini, Renato Borgatti, Romina Romaniello, Sara Nuovo, Alessia Micalizzi, Stefano D'Arrigo, Enza Maria Valente, Lucio Giordano
المصدر: Nephrology Dialysis Transplantation
مصطلحات موضوعية: Male, Joubert syndrome, juvenile nephronophthisis, chronic kidney disease, inherited ciliopathies, 030232 urology & nephrology, 030204 cardiovascular system & hematology, Gastroenterology, 0302 clinical medicine, Risk Factors, Cerebellum, Juvenile nephronophthisis, Eye Abnormalities, Child, Kidney, Kidney Diseases, Cystic, 1-deamino-8D-arginine vasopressin testearly diagnosisJoubert syndromenephronophthisisurine osmolality, Survival Rate, medicine.anatomical_structure, Nephrology, 1-deamino-8D-arginine vasopressin test, Child, Preschool, Urine osmolality, Disease Progression, Female, early diagnosis, Adult, medicine.medical_specialty, Adolescent, government.form_of_government, Urinary system, Renal function, Retina, End stage renal disease, 03 medical and health sciences, Young Adult, Nephronophthisis, Clinical Research, Internal medicine, medicine, Humans, Abnormalities, Multiple, Renal Insufficiency, Chronic, AcademicSubjects/MED00340, Transplantation, business.industry, urine osmolality, Osmolar Concentration, Infant, Newborn, Infant, medicine.disease, nephronophthisis, government, ORIGINAL ARTICLES, business, Biomarkers, Kidney disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13739ac47637eacb05140883baf87594
http://hdl.handle.net/11379/512227 -
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المؤلفون: Nicola Vanacore, Vincenzo Leuzzi, Luca Bosco, V. Brankovic, Enza Maria Valente, Maria Teresa Bassi, Roberta Battini, Marisol Mirabelli Badenier, Savina Dipresa, Enrico Bertini, Tommaso Mazza, Elena Freri, Ginevra Zanni, Lorena Travaglini, Romina Romaniello, Antonella Casella, Claudio Graziano, Danijela Petković Ramadža, Itxaso Marti, Renato Borgatti, Marilena Briguglio, Sara Rossato, Stefano Sartori, Alessandro Simonati, Valentina Serpieri, Ronen Spiegel, Sara Nuovo, Grazia Gabriella Salerno, Giovanni Vento, Alessia Micalizzi, Filippo Arrigoni, Nardo Nardocci, Bruria Ben-Zeev, Stefano D'Arrigo, Monia Ginevrino
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, phenotype, genotype, cerebellar diseases, Pontocerebellar hypoplasia, Biology, medical, 03 medical and health sciences, and neonatal diseases and abnormalities, congenital, genetics, hereditary, neonatal diseases and abnormalities, 0302 clinical medicine, Cerebellum, Genotype, medicine, Humans, Multiplex ligation-dependent probe amplification, CASK, Gene, Genetics (clinical), Genetics, Genetic heterogeneity, neonatal diseases, Nuclear Proteins, abnormalities, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, Mutation, Olivopontocerebellar Atrophies, Female, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e234a2300ef5704781f26df4a5e364
http://hdl.handle.net/11568/1115898 -
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المؤلفون: Theo Heller, Maida L. Chen, Ruxandra Bachmann-Gagescu, Dan Doherty, Jordan M. Symons, Angela C. Summers, Stefano D'Arrigo, Meral Gunay-Aygun, Sara Bulgheroni, Sara Nuovo, Ian A. Glass, Melissa A. Parisi, Eugen Boltshauser, Enza Maria Valente, Nirmal Joshi, Hester Y. Kroes, Elise Héon, Stephen H. Mack, Wadih M. Zein, Joseph Snow, Dana Knutzen, Friedhelm Hildebrandt, Jennifer C. Dempsey, John A. Sayer
المساهمون: University of Zurich, Doherty, Dan
المصدر: Am J Med Genet A
مصطلحات موضوعية: 0301 basic medicine, 2716 Genetics (clinical), medicine.medical_specialty, Health Planning Guidelines, 10039 Institute of Medical Genetics, Health Personnel, Molar tooth sign, Quality care, 610 Medicine & health, 030105 genetics & heredity, Subspecialty, Kidney, Joubert syndrome, Article, Retina, 03 medical and health sciences, Neurodevelopmental disorder, 1311 Genetics, Cerebellum, Health care, Genetics, medicine, Humans, Brain magnetic resonance imaging, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), Organ system, business.industry, Kidney Diseases, Cystic, medicine.disease, ciliopathy, kidney, liver, retina, treatment, Brain Stem, Liver, Neurodevelopmental Disorders, 030104 developmental biology, Family medicine, 570 Life sciences, biology, business
وصف الملف: Bachmann-Gagescu_AJMGA_ZORA.pdf - application/pdf; ajmg.a.61399.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2769d461f9165cf1bf3d8772141d32f
https://europepmc.org/articles/PMC7679947/ -
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المؤلفون: Alessia Micalizzi, Maria Margherita Mancardi, Stefano D'Arrigo, Annette Hackenberg, Andrea Rossi, Alma Kuechler, Enza Maria Valente, Eugen Boltshauser, Barbara Oehl-Jaschkowitz, Frank Tüttelmann, Andrea Citterio, Maria Teresa Bassi, Dagmar Wahl, Angela Berardinelli, Raffaella Cusmai, Andrea Poretti, Ute Hehr, Filippo Arrigoni, Elena Panzeri, Maria Francesca Bedeschi, Renato Borgatti, Sara Nuovo, Alessandro Ferraris, Sabrina Signorini, Romina Romaniello
المساهمون: University of Zurich, Borgatti, Renato
المصدر: European Radiology. 27:5080-5092
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Cerebellum, Developmental Disabilities, Medizin, Dysplasia, Mutation, Neuroimaging, Tubulin genes, 0302 clinical medicine, Tubulin, Child, Neuroradiology, biology, General Medicine, Anatomy, Middle Aged, Magnetic Resonance Imaging, medicine.anatomical_structure, Child, Preschool, Female, Adult, Brain Stem, Humans, Infant, Nervous System Malformations, Young Adult, medicine.medical_specialty, Cerebellar dysplasia, 610 Medicine & health, Lateralization of brain function, 03 medical and health sciences, medicine, 2741 Radiology, Nuclear Medicine and Imaging, Radiology, Nuclear Medicine and imaging, TUBB3, business.industry, medicine.disease, 030104 developmental biology, 10036 Medical Clinic, biology.protein, business, 030217 neurology & neurosurgery
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