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1
المؤلفون: Michael Young, Astrid C Hengartner, Matthew Putty, Todd C. Hankinson, John A Maloney, David M. Mirsky
المصدر: Child's Nervous System. 37:13-19
مصطلحات موضوعية: 0301 basic medicine, Shunt placement, medicine.medical_specialty, Cerebellum, Ventriculoperitoneal shunting, business.industry, Decompression, Macrocerebellum, General Medicine, 030105 genetics & heredity, medicine.disease, Surgery, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Posthemorrhagic hydrocephalus, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery, Chiari malformation
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2
المؤلفون: Felice D'Arco, Kshitij Mankad, Alessandra D'Amico, Maria Pia Riccio, Chiara Figliuolo, Ferdinando Caranci, Lorenzo Ugga
المساهمون: D'Arco, F, Ugga, L, Caranci, Ferdinando, Riccio, M. P, Figliuolo, C, Mankad, K, D'Amico, A., D'Arco, F., Ugga, L., Caranci, F., Riccio, M. P., Figliuolo, C., Mankad, K.
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Cerebellum, macrocerebellum, 030105 genetics & heredity, Fucosidosis, 03 medical and health sciences, 0302 clinical medicine, Costello syndrome, Cerebellum (CB), Cerebellum, macrocerebellum, cognitive function, developmental delay, medicine, Radiology, Nuclear Medicine and imaging, Pathological, cognitive function, medicine.diagnostic_test, Sotos syndrome, business.industry, Magnetic resonance imaging, medicine.disease, Alexander disease, developmental delay, medicine.anatomical_structure, Original Article, Williams syndrome, Nuclear medicine, business, 030217 neurology & neurosurgery
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3
المؤلفون: Umberto Balottin, Sergio Arnoldi, Stefano Bastianello, Anna Pichiecchio, Vincenzo Branca, Carol Di Perri, Angela Berardinelli
المصدر: Journal of Child Neurology. 26:756-760
مصطلحات موضوعية: Male, Cerebellum, Acrocallosal Syndrome, Corpus Callosum Agenesis, business.industry, Macrocerebellum, Infant, Anatomy, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, nervous system, Pediatrics, Perinatology and Child Health, medicine, Etiology, Humans, Longitudinal Studies, Neurology (clinical), Agenesis of the corpus callosum, business
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4Academic Journal
المؤلفون: D'Arco F., Ugga L., Caranci F., Riccio M. P., Figliuolo C., Mankad K., D'Amico A.
المساهمون: D'Arco, F., Ugga, L., Caranci, F., Riccio, M. P., Figliuolo, C., Mankad, K., D'Amico, A.
مصطلحات موضوعية: Cerebellum (CB), Cognitive function, developmental delay, Macrocerebellum
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000391389300003; volume:6; issue:5; firstpage:496; lastpage:503; numberofpages:8; journal:QUANTITATIVE IMAGING IN MEDICINE AND SURGERY; http://hdl.handle.net/11588/820059; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84994845888
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5Academic Journal
المؤلفون: Seeley, Andrea H., Durham, Mark A., Micale, Mark A., Wesolowski, Jeffrey, Foerster, Bradley R., Martin, Donna M.
مصطلحات موضوعية: JPH3, SLC7A5, Deletion Syndrome, FBXO31, Macrocerebellum, MAP1LC3B, Genetics, Health Sciences
وصف الملف: application/pdf
Relation: Seeley, Andrea H.; Durham, Mark A.; Micale, Mark A.; Wesolowski, Jeffrey; Foerster, Bradley R.; Martin, Donna M. (2014). "Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion." American Journal of Medical Genetics Part A 164(8): 2062-2068.; http://hdl.handle.net/2027.42/108054; American Journal of Medical Genetics Part A; Nowak DA, Trost HA. 2002. Lhermitte–Duclos disease (dysplastic cerebellar gangliocytoma): A malformation, hamartoma or neoplasm ? Acta Neurol Scand 105: 137 – 145.; Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul‐Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND. 2013. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. J Med Genet 50: 163 – 173.; Inui K, Akagi M, Nishigaki T, Muramatsu T, Tsukamoto H, Okada S. 2000. A case of chronic infantile type of fucosidosis: Clinical and magnetic resonance image findings. Brain Dev 22: 47 – 49.; Jones W, Hesselink J, Courchesne E, Duncan T, Matsuda K, Bellugi U. 2002. Cerebellar abnormalities in infants and toddlers with Williams syndrome. Dev Med Child Neurol 44: 688 – 694.; Kageyama T, Imura T, Matsuo A, Minato N, Shimohama S. 2000. Distribution of the 4F2 light chain, LAT1, in the mouse brain. Neuroreport 11: 3663 – 3666.; Kakizawa S, Kishimoto Y, Hashimoto K, Miyazaki T, Furutani K, Shimizu H, Fukaya M, Nishi M, Sakagami H, Ikeda A, Kondo H, Kano M, Watanabe M, Iino M, Takeshima H. 2007. Junctophilin‐mediated channel crosstalk essential for cerebellar synaptic plasticity. EMBO J 26: 1924 – 1933.; Kau T, Karlo C, Gungor T, Prietsch V, Kellenberger CJ, Scheer I, Boltshauser E. 2011. Increased cerebellar volume in the early stage of fucosidosis: A case control study. Neuroradiology 53: 509 – 516.; Kumar R, Neilsen PM, Crawford J, McKirdy R, Lee J, Powell JA, Saif Z, Martin JM, Lombaerts M, Cornelisse CJ, Cleton‐Jansen AM, Callen DF. 2005. FBXO31 is the chromosome 16q24.3 senescence gene, a candidate breast tumor suppressor, and a component of an SCF complex. Cancer Res 65: 11304 – 11313.; Lim BC, Cho KY, Lim JS, Lee RS, Kim HS, Kim MK, Kim JH, Woo YJ, Kim JK, Kim do K, Kim HI, Lee KW, Lee MC. 2011. Increased expression of L‐amino acid transporters in balloon cells of tuberous sclerosis. Childs Nerv Syst 27: 63 – 70.; Milbouw G, Born JD, Martin D, Collignon J, Hans P, Reznik M, Bonnal J. 1988. Clinical and radiological aspects of dysplastic gangliocytoma (Lhermitte–Duclos disease): A report of two cases with review of the literature. Neurosurgery 22: 124 – 128.; Mizushima N, Yamamoto A, Matsui M, Yoshimori T, Ohsumi Y. 2004. In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker. Mol Biol Cell 15: 1101 – 1111.; Nishi M, Hashimoto K, Kuriyama K, Komazaki S, Kano M, Shibata S, Takeshima H. 2002. Motor discoordination in mutant mice lacking junctophilin type 3. Biochem Biophys Res Commun 292: 318 – 324.; Nishi M, Sakagami H, Komazaki S, Kondo H, Takeshima H. 2003. Coexpression of junctophilin type 3 and type 4 in brain. Brain Res Mol Brain Res 118: 102 – 110.; Perez‐Nunez A, Lagares A, Benitez J, Urioste M, Lobato RD, Ricoy JR, Ramos A, Gonzalez P. 2004. Lhermitte–Duclos disease and Cowden disease: Clinical and genetic study in five patients with Lhermitte–Duclos disease and literature review. Acta Neurochir 146: 679 – 690.; Pichiecchio A, Di Perri C, Arnoldi S, Berardinelli A, Branca V, Balottin U, Bastianello S. 2011. Cerebellum enlargement and corpus callosum agenesis: A longitudinal case report. J Child Neurol 26: 756 – 760.; Poretti A, Mall V, Smitka M, Grunt S, Risen S, Toelle SP, Benson JE, Yoshida S, Jung NH, Tinschert S, Neuhann TM, Rauch A, Steinlin M, Meoded A, Huisman TA, Boltshauser E. 2012. Macrocerebellum: Significance and pathogenic considerations. Cerebellum 11: 1026 – 1036.; Santra MK, Wajapeyee N, Green MR. 2009. F‐box protein FBXO31 mediates cyclin D1 degradation to induce G1 arrest after DNA damage. Nature 459: 722 – 725.; Schaefer GB, Bodensteiner JB, Buehler BA, Lin A, Cole TR. 1997. The neuroimaging findings in Sotos syndrome. Am J Med Genet 68: 462 – 465.; Seixas AI, Holmes SE, Takeshima H, Pavlovich A, Sachs N, Pruitt JL, Silveira I, Ross CA, Margolis RL, Rudnicki DD. 2012. Loss of junctophilin‐3 contributes to Huntington disease‐like 2 pathogenesis. Ann Neurol 71: 245 – 257.; Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K. 2000. Junctophilins: A novel family of junctional membrane complex proteins. Mol Cell 6: 11 – 22.; Tang T, Li L, Tang J, Li Y, Lin WY, Martin F, Grant D, Solloway M, Parker L, Ye W, Forrest W, Ghilardi N, Oravecz T, Platt KA, Rice DS, Hansen GM, Abuin A, Eberhart DE, Godowski P, Holt KH, Peterson A, Zambrowicz BP, de Sauvage FJ. 2010. A mouse knockout library for secreted and transmembrane proteins. Nat Biotechnol 28: 749 – 755.; Torreman M, Smit LM, van der Valk P, Valk J, Scheltens P. 1993. A case of macrocephaly, hydrocephalus, megacerebellum, white matter abnormalities and Rosenthal fibres. Dev Med Child Neurol 35: 732 – 736.; Vadhvani M, Schwedhelm‐Domeyer N, Mukherjee C, Stegmuller J. 2013. The centrosomal E3 ubiquitin ligase FBXO31‐SCF regulates neuronal morphogenesis and migration. PLoS ONE 8: e57530.; van der Knaap MS, Salomons GS, Li R, Franzoni E, Gutierrez‐Solana LG, Smit LM, Robinson R, Ferrie CD, Cree B, Reddy A, Thomas N, Banwell B, Barkhof F, Jakobs C, Johnson A, Messing A, Brenner M. 2005. Unusual variants of Alexander's disease. Ann Neurol 57: 327 – 338.; Wilburn B, Rudnicki DD, Zhao J, Weitz TM, Cheng Y, Gu X, Greiner E, Park CS, Wang N, Sopher BL, La Spada AR, Osmand A, Margolis RL, Sun YE, Yang XW. 2011. An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease‐like 2 mice. Neuron 70: 427 – 440.; Bodensteiner JB, Schaefer GB, Keller GM, Thompson JN, Bowen MK. 1997. Macrocerebellum: Neuroimaging and clinical features of a newly recognized condition. J Child Neurol 12: 365 – 368.; Brain Development Cooperative Group. 2012. Total and regional brain volumes in a population‐based normative sample from 4 to 18 years: The NIH MRI Study of Normal Brain Development. Cereb Cortex 22: 1 – 12.; Butler MG, Dagenais SL, Garcia‐Perez JL, Brouillard P, Vikkula M, Strouse P, Innis JW, Glover TW. 2012. Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. Am J Med Genet Part A 158A: 839 – 849.; Cann GM, Guignabert C, Ying L, Deshpande N, Bekker JM, Wang L, Zhou B, Rabinovitch M. 2008. Developmental expression of LC3alpha and beta: Absence of fibronectin or autophagy phenotype in LC3beta knockout mice. Dev Dyn 237: 187 – 195.; Conway RL, Danielpour M, Graham JM Jr. 2007a. Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly‐cutis marmorata telangiectatica congenita. Report of three cases. J Neurosurg 106: 296 – 301.; Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez‐Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr. 2007b. Neuroimaging findings in macrocephaly‐capillary malformation: A longitudinal study of 17 patients. Am J Med Genet Part A 143A: 2981 – 3008.; Duelli R, Enerson BE, Gerhart DZ, Drewes LR. 2000. Expression of large amino acid transporter LAT1 in rat brain endothelium. J Cereb Blood Flow Metab 20: 1557 – 1562.; Gripp KW, Hopkins E, Doyle D, Dobyns WB. 2010. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. Am J Med Genet Part A 152A: 1161 – 1168.; Gripp KW, Hopkins E, Sol‐Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE. 2011. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Am J Med Genet Part A 155A: 706 – 716.
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6
المؤلفون: Izlem Izbudak, Gokmen Zararsiz, Niyazi Acer, Andrea Poretti, Kazim Gumus
المصدر: Turkish Neurosurgery.
مصطلحات موضوعية: Cerebellum, business.industry, Macrocerebellum, White matter microstructure, Nuclear magnetic resonance, medicine.anatomical_structure, nervous system, Enlarged cerebellum, Fractional anisotropy, Brain size, medicine, Surgery, Neurology (clinical), Anisotropy, business, Diffusion MRI
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7
المؤلفون: Aylin Tekes, Thierry A. G. M. Huisman, Eugen Boltshauser, Andrea Poretti, Tayfun Güngör, Ianina Scheer, Gustavo Maegawa, Eman Alqahtani
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 18(2)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Cerebellum, Adolescent, Mucopolysaccharidosis I, Supratentorial region, Neuroimaging, White matter, Young Adult, Image Interpretation, Computer-Assisted, medicine, Humans, Perivascular space, Child, Mucopolysaccharidosis II, Retrospective Studies, Cerebral atrophy, Macrocerebellum, Infant, General Medicine, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Psychology, Ventriculomegaly
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8
المؤلفون: Teresa Neuhann, Martin Smitka, Eugen Boltshauser, Jane E. Benson, Sebastian Grunt, Sandra P. Toelle, Sigrid Tinschert, Shoko Yoshida, Avner Meoded, Andrea Poretti, Nikolai H. Jung, Anita Rauch, Thierry A. G. M. Huisman, Volker Mall, Sarah Risen, Maja Steinlin
المساهمون: University of Zurich, Boltshauser, Eugen
المصدر: Poretti, Andrea; Mall, Volker; Smitka, Martin; Grunt, Sebastian; Risen, Sarah; Toelle, Sandra P; Benson, Jane E; Yoshida, Shoko; Jung, Nikolai H; Tinschert, Sigrid; Neuhann, Teresa M; Rauch, Anita; Steinlin, Maja; Meoded, Avner; Huisman, Thierry A G M; Boltshauser, Eugen (2012). Macrocerebellum: Significance and Pathogenic Considerations. Cerebellum, 11(4), pp. 1026-36. New York, N.Y.: Springer 10.1007/s12311-012-0379-1 <http://dx.doi.org/10.1007/s12311-012-0379-1>
مصطلحات موضوعية: Male, medicine.medical_specialty, Cerebellum, Pathology, Neurology, Movement disorders, 10039 Institute of Medical Genetics, 610 Medicine & health, Neuroimaging, Cerebellar Diseases, medicine, Humans, Muscular hypotonia, medicine.diagnostic_test, Macrocerebellum, Infant, Newborn, Brain, Infant, Cognition, Magnetic resonance imaging, Magnetic Resonance Imaging, medicine.anatomical_structure, 2728 Neurology (clinical), 10036 Medical Clinic, 2808 Neurology, 570 Life sciences, biology, Muscle Hypotonia, Female, Neurology (clinical), medicine.symptom, Psychology
وصف الملف: ZORA_NL_70466.pdf - application/pdf; application/pdf
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9
المؤلفون: T.A.G.M. Huisman, Eugen Boltshauser, Nikolai H. Jung, Martin Smitka, Sandra P. Toelle, Maja Steinlin, Andrea Poretti, Sebastian Grunt, Volker Mall
المصدر: Neuropediatrics. 43
مصطلحات موضوعية: Cerebellum, Pediatrics, medicine.medical_specialty, Pathology, Movement disorders, medicine.diagnostic_test, Muscular hypotonia, business.industry, Macrocerebellum, Magnetic resonance imaging, Cognition, General Medicine, medicine.anatomical_structure, Neuroimaging, Pediatrics, Perinatology and Child Health, medicine, Cognitive development, Neurology (clinical), medicine.symptom, business