المؤلفون: Renata Rizzo, Roberta Battini, Rossella Parini, Rita Barone, Gert Matthijs, Daniele Frattini, Domenico Garozzo, Elisa Biamino, Serena Gasperini, Giuseppe Sortino, Jaak Jaeken, Annalisa Madeo, Diego Martinelli, Maja Di Rocco, Fabio Pettinato, Agata Fiumara, Luisa Sturiale, F Sirchia, Giovanni Mostile, Amelia Morrone

المصدر: Cerebellum (Lond., Print) 20 (2021): 596–605. doi:10.1007/s12311-021-01242-x
info:cnr-pdr/source/autori:Pettinato, Fabio; Mostile, Giovanni; Battini, Roberta; Martinelli, Diego; Madeo, Annalisa; Biamino, Elisa; Frattini, Daniele; Garozzo, Domenico; Gasperini, Serena; Parini, Rossella; Sirchia, Fabio; Sortino, Giuseppe; Sturiale, Luisa; Matthijs, Gert; Morrone, Amelia; Di Rocco, Maja; Rizzo, Renata; Jaeken, Jaak; Fiumara, Agata; Barone, Rita/titolo:Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)/doi:10.1007%2Fs12311-021-01242-x/rivista:Cerebellum (Lond., Print)/anno:2021/pagina_da:596/pagina_a:605/intervallo_pagine:596–605/volume:20
Cerebellum (London, England)

مصطلحات موضوعية: Male, medicine.medical_specialty, Cerebellum, Ataxia, Neurology, Pons atrophy, Activities of daily living, Cerebellar atrophy, Congenital disorder(s) of glycosylation, PMM2 variants, 03 medical and health sciences, Congenital Disorders of Glycosylation, 0302 clinical medicine, Cerebellar Diseases, Internal medicine, Intellectual disability, medicine, Humans, 0303 health sciences, business.industry, 030305 genetics & heredity, medicine.disease, Peripheral neuropathy, medicine.anatomical_structure, Phosphotransferases (Phosphomutases), Mutation, Cerebellar vermis, Original Article, Neurology (clinical), Atrophy, medicine.symptom, business, Congenital disorder of glycosylation, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::564a5727be58aa4b9577de8c54ba4ae1Test
http://hdl.handle.net/11568/1116716Test

المؤلفون: Maria Beatriz Herrera Sanchez, Francesco Tandoi, Carlo Gazzera, Pier Luigi Calvo, Mauro Salizzoni, Antonio Amoroso, Lorenzo Silengo, Renato Romagnoli, Cristina Contursi, Marco Spada, Monica Gunetti, Ivana Ferrero, Stefania Bruno, Giovanni Camussi, Alessandra Conio, Francesco Porta, Franca Fagioli, Carola Lauritano, Dorico Righi, Elisa Biamino

المصدر: Stem Cell Reviews and Reports

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Drug-Related Side Effects and Adverse Reactions, medicine.medical_treatment, Methylmalonic acidemia, Argininosuccinic Aciduria, Inborn errors of metabolism, Liver transplantation, Gastroenterology, Article, 03 medical and health sciences, 0302 clinical medicine, Ammonia, 030225 pediatrics, Internal medicine, medicine, Humans, Hyperammonemia, Urea, Decompensation, Age of Onset, Adverse effect, Amino Acid Metabolism, Inborn Errors, business.industry, Stem Cells, Infant, Newborn, Immunosuppression, Cell Differentiation, medicine.disease, Hepatocytes, Stem cells, 030104 developmental biology, Argininosuccinic aciduria, Liver, Female, Liver function, business, Metabolism, Inborn Errors, Stem Cell Transplantation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b464a137df2f3356f68aadfa2d2889dcTest
https://pubmed.ncbi.nlm.nih.gov/31792768Test

المؤلفون: Marco Spada, David Kasper, Elisa Biamino, Veronica Pagliardini, Francesco Porta, Silvana Giachero

المصدر: Italian Journal of Pediatrics

مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, medicine.medical_specialty, Spectrometry, Mass, Electrospray Ionization, Globotriaosylceramide, Asymptomatic, Gastroenterology, Pediatrics, Lysosomal storage disorders, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Genotype, medicine, Humans, Clinical phenotype, Child, Newborn screening, Fabry disease, Sphingolipids, Alpha-galactosidase, biology, business.industry, Research, Infant, Newborn, Perinatology and Child Health, medicine.disease, Globotriaosylsphingosine, Pediatrics, Perinatology and Child Health, Sphingolipid, Pedigree, 030104 developmental biology, Endocrinology, Phenotype, chemistry, alpha-Galactosidase, biology.protein, Disease Progression, medicine.symptom, Glycolipids, business, 030217 neurology & neurosurgery, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e591523233a3c86acbe8009047b31b5Test
http://europepmc.org/articles/PMC5209809Test

المؤلفون: B. van Lier, Luis A. Pérez-Jurado, Alexander Hoischen, Periklis Makrythanasis, I. van der Burgt, Ann Nordgren, Alexandre Reymond, Britt-Marie Anderlid, M. del Campo, Ivon Cuscó, L. Toledo, Jacqueline Schoumans, C. M. Kets, B W M van Bon, Michael A. Simpson, M. Ruiterkamp-Versteeg, Juliette Dupont, Margherita Silengo, E. Frysira, L. Izatt, Lucia Micale, Willie Reardon, Stavroula Psoni, Patricia Dias, Helger G. Yntema, Nicole Revencu, Joris A. Veltman, Bartolomeo Augello, Juliane Hoyer, Isabel Cordeiro, Tony Roscioli, Giuseppe Merla, Ernie M.H.F. Bongers, M. Bhat, Christian Gilissen, Stylianos E. Antonarakis, H. G. Santos, E. Galan, Elisa Biamino, Peer Arts, Blanca Gener, Shehla Mohammed, A. M. Cueto-Gonzalez, Marloes Steehouwer, Richard C. Trembath, Carlo Marcelis, B. B. A. de Vries, Christiane Zweier, Han G. Brunner, B. Rodriguez-Santiago, Raquel Flores, Charu Deshpande, Janneke H M Schuurs-Hoeijmakers, S. A. de Munnik, Ana Medeira, Teresa Vendrell, David A. Koolen, S. M. Granneman

المصدر: Clinical Genetics. 84:539-545

مصطلحات موضوعية: medicine.medical_specialty, media_common.quotation_subject, Nonsense, Bioinformatics, medicine.disease_cause, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Coding region, Missense mutation, Gene, Genetics (clinical), 030304 developmental biology, media_common, 0303 health sciences, Mutation, Sotos syndrome, business.industry, medicine.disease, Phenotype, business, Kabuki syndrome, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::39eaa9d360ba5272c5f971c1f5c02e9aTest
https://doi.org/10.1111/cge.12081Test

المؤلفون: Giovanni Battista Ferrero, Andrea Veltri, Elisa Biamino, Alessandro Mussa, Emanuela Garelli, Margherita Silengo, Fabrizio Gennari, Francesca Chiappe, Francesco Porta

المصدر: European journal of pediatrics. 169(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, Umbilical Veins, Patent ductus venosus, Persistent patent ductus venosus, Vena Cava, Inferior, Disease, Child Behavior Disorders, Asymptomatic, Gastroenterology, Internal medicine, Congenital portosystemic shunt, medicine, Humans, Hyperammonemia, Child, Protein loading test, business.industry, Metabolic disorder, Twins, Monozygotic, medicine.disease, Surgery, Portal System, Urea cycle, Pediatrics, Perinatology and Child Health, Gross anatomy, Portosystemic shunt, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9c87e279cc8037e8c120bd623dd45f0Test
https://pubmed.ncbi.nlm.nih.gov/19618212Test

المؤلفون: Giuseppina Baldassarre, Alessandro Mussa, Elisa Biamino, Andrea Corrias, Margherita Silengo

مصطلحات موضوعية: medicine.medical_specialty, Cerebellum, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Phenotype, Congenital hypothyroidism, Hemangioma, Endocrinology, medicine.anatomical_structure, Atrophy, Internal medicine, medicine, Cerebellar atrophy, PHACES Syndrome, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09e2dc256d52e426cf6e02fd0bbc080Test
http://hdl.handle.net/2318/27418Test