-
1Editorial & Opinion
عنوان ترانسليتريتد: Disfunción cerebelosa de aparición aguda en la infancia.
المؤلفون: Prats-Viñas JM
المصدر: Revista de neurologia [Rev Neurol] 2006 Apr 16-30; Vol. 42 (8), pp. 449-50.
نوع المنشور: Comment; Editorial
بيانات الدورية: Publisher: Revista De Neurologia Country of Publication: Spain NLM ID: 7706841 Publication Model: Print Cited Medium: Print ISSN: 0210-0010 (Print) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE
مواضيع طبية MeSH: Infant*, Cerebellar Diseases/*pathology , Cerebellar Diseases/*physiopathology, Age of Onset ; Cerebellar Diseases/etiology ; Humans ; Pediatrics
-
2دورية أكاديمية
المؤلفون: Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B, McLean, Catriona A, Kornberg, Andrew J, Joseph, Jörg, Lockhart, Paul J, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Koehler, Carla M, Jen, Joanna C
المصدر: Brain. 139(11)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Genetics, Pediatric, Orphan Drug, Neurodegenerative, Rare Diseases, Brain Disorders, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amino Acids, Animals, Animals, Genetically Modified, Brain, Cell Line, Transformed, Cells, Cultured, Cerebellar Diseases, Cohort Studies, Embryo, Nonmammalian, Female, Genetic Predisposition to Disease, Humans, Infant, Magnetic Resonance Imaging, Male, Mitochondria, Mitochondrial Dynamics, Mitochondrial Proteins, Models, Molecular, Mutation, Phosphate Transport Proteins, Polymorphism, Single Nucleotide, Zebrafish, pontocerebellar hypoplasia, SLC25A46, mitochondria, optic atrophy spectrum disorder, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences, Psychology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0b77c7sz
-
3دورية أكاديمية
المؤلفون: Breuss, Martin W, Sultan, Tipu, James, Kiely N, Rosti, Rasim O, Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S, Reuter, Miriam S, Jamra, Rami Abou, Trotta, Christopher R, Gleeson, Joseph G
المصدر: American Journal of Human Genetics. 99(1)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Neurosciences, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amino Acid Sequence, Cerebellar Diseases, Child, Child, Preschool, Endonucleases, Female, Genes, Recessive, Humans, Infant, Infant, Newborn, Male, Microcephaly, Models, Molecular, Mutation, Pedigree, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5rp3661j
-
4دورية أكاديمية
المؤلفون: Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip LSM, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G
المصدر: Nature Genetics. 47(5)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Clinical Research, Animals, Atrophy, Autophagy, Cerebellar Diseases, Cerebellum, Child, Preschool, Female, Gene Frequency, Humans, Infant, Lod Score, Lysosomal Storage Diseases, Lysosomes, Male, Mutation, Phagosomes, Sorting Nexins, Spinocerebellar Ataxias, Syndrome, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/57n4q5z6
-
5
المؤلفون: Pierpaolo Gaglini, Stefano Vallero, Anna Salvalaggio, Giulia Pilloni, Paola Ragazzi, Paola Peretta, Federica Ricci, Sara Rampone, Francesca Rossi, Daniele Bertin, Paolo Pacca, Chiara Davico, Benedetto Vitiello, Franca Fagioli, Rossella D’Alessandro, Giorgia Gamberini, Mario Cacciacarne, Alessandra Somà
المصدر: European Journal of Pediatrics. 181:941-950
مصطلحات موضوعية: Cerebellar Mutism, Pediatrics, medicine.medical_specialty, Emotional lability, Adolescent, Mutism, Pediatric cerebellar mutism syndrome, Postoperative Complications, Cerebellar Diseases, Surgical removal, Humans, Medicine, Postoperative Period, Tumor location, Post operative, Cerebellar Neoplasms, Child, Pediatric cerebellar mutism syndrome scoring system, Posterior cranial fossa tumors, business.industry, Infant, Dysphagia, Hypotonia, Child, Preschool, Pediatrics, Perinatology and Child Health, Tumor surgery, medicine.symptom, business
-
6
المؤلفون: Paras A Patel, Julia V Hegert, Ingrid Cristian, Alicia Kerr, Leslie E W LaConte, Michael A Fox, Sarika Srivastava, Konark Mukherjee
المصدر: J Med Genet
مصطلحات موضوعية: Male, Infant, Neurodegenerative Diseases, Article, Mice, nervous system, Genes, X-Linked, Cerebellar Diseases, Genetics, Rett Syndrome, Humans, Animals, Female, Guanylate Kinases, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7445df96aca583a2ed534588af7484b3
https://europepmc.org/articles/PMC9365889/ -
7
المؤلفون: Anju Shukla, Rajagopal Kadavigere, Puneeth H. Somashekar, Parneet Kaur, Katta M. Girisha, Vishal Singh Guleria, Priyanka Upadhyai, Stephanie L. Bielas, Joshi Stephen
المصدر: Clin Genet
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Candidate gene, Microcephaly, Protein Conformation, Exosome complex, Developmental Disabilities, Mutation, Missense, Pontocerebellar hypoplasia, 030105 genetics & heredity, Biology, Article, Consanguinity, 03 medical and health sciences, Cerebellar Diseases, Exome Sequencing, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Alleles, Genetics (clinical), Exome sequencing, Exosome Multienzyme Ribonuclease Complex, Sequence Homology, Amino Acid, Brain, Infant, RNA-Binding Proteins, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Amino Acid Substitution, medicine.symptom, Sequence Alignment
-
8
المؤلفون: Miyuki Shimizu, Tadashi Miyagawa, Akira Yamaura
المصدر: Child's Nervous System. 37:2905-2909
مصطلحات موضوعية: Male, medicine.medical_specialty, Venography, Dissection (medical), 03 medical and health sciences, 0302 clinical medicine, Cerebellar Diseases, medicine.artery, medicine, Humans, Pica (disorder), Vertebral Artery, medicine.diagnostic_test, Arterial dissection, business.industry, Dissection, Infant, Newborn, Infant, Intracranial Aneurysm, 030208 emergency & critical care medicine, General Medicine, medicine.disease, Hydrocephalus, Surgery, Aortic Dissection, Posterior inferior cerebellar artery, Pediatrics, Perinatology and Child Health, Angiography, Neurology (clinical), Neurosurgery, medicine.symptom, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77685e65771e6e89056f4505cc9bec8a
https://doi.org/10.1007/s00381-021-05056-4 -
9
المؤلفون: Satoko Kumada, Satomi Mitsuhashi, Naomichi Matsumoto, Keiko Ishigaki, Satoko Miyatake, Hideaki Mashimo, Mahdiyeh Behnam, Futoshi Sekiguchi, Masamune Sakamoto, Nobuhiko Okamoto, Hirotomo Saitsu, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Eriko Koshimizu, Kazuhiro Iwama, Mohsen Ghadami
المصدر: Journal of Human Genetics. 66:401-407
مصطلحات موضوعية: Male, 0301 basic medicine, Pontine structure, Pathology, medicine.medical_specialty, Intellectual development, Exosome complex, Pontocerebellar hypoplasia, 030105 genetics & heredity, Biology, medicine.disease_cause, Muscular Atrophy, Spinal, 03 medical and health sciences, Pontine atrophy, Cerebellar Diseases, Genetics, medicine, Humans, Motor Neuron Disease, Gene, Genetic Association Studies, Genetics (clinical), Mutation, Exosome Multienzyme Ribonuclease Complex, Infant, RNA-Binding Proteins, medicine.disease, Pedigree, 030104 developmental biology, Olivopontocerebellar Atrophies, Female, Cerebellar atrophy, Atrophy
-
10
المؤلفون: Kevin M. Flanigan, Ashita Dave-Wala, Megan A. Waldrop, Julie M. Gastier-Foster, Nicolas J. Abreu, Daniel C. Koboldt
المصدر: American Journal of Medical Genetics Part A. 182:557-560
مصطلحات موضوعية: Male, 0301 basic medicine, Pontocerebellar hypoplasia, 030105 genetics & heredity, Biology, Collagen Type XI, Vitreous Detachment, AMP Deaminase, 03 medical and health sciences, Neurodevelopmental disorder, Cerebellar Diseases, Genetics, medicine, Humans, Missense mutation, Exome, Global developmental delay, Connective Tissue Diseases, Genetics (clinical), Stickler Syndrome Type 2, Homozygote, Infant, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Pedigree, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Female, Sensorineural hearing loss, medicine.symptom
إعادة تعيين المنقحات
عرض المنقحات (%%عد%%)