المؤلفون: Giunti, P, Mantuano, E, Frontali, M, Veneziano, L

المصدر: Frontiers of Cellular Neuroscience , 9 , Article 36. (2015)

مصطلحات موضوعية: CACNA1A, CaV2.1, P/Q type calcium channel, SCA6, Spinocerebellar Ataxia type 6, channelopathy, polyglutamine disorder

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1466993/2/Giunti.1466993_fncel-09-00036-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1466993Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1466993/2/Giunti.1466993_fncel-09-00036-2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1466993Test/

المؤلفون: Veneziano, L, Albertosi, S, Pesci, D, Mantuano, E, Frontali, M, IODICE, CARLA

المساهمون: Veneziano, L, Albertosi, S, Pesci, D, Mantuano, E, Frontali, M, Iodice, C

مصطلحات موضوعية: Settore BIO/18 - GENETICA, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000291330800012; volume:305; issue:1-2; firstpage:71; lastpage:74; journal:JOURNAL OF THE NEUROLOGICAL SCIENCES; http://hdl.handle.net/2108/41308Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79955688357

الإتاحة: https://doi.org/10.1016/j.jns.2011.03.010Test
http://hdl.handle.net/2108/41308Test

المؤلفون: Veneziano, L, Parkinson, MH, Mantuano, E, Frontali, M, Bhatia, KP, Giunti, P

المصدر: Cerebellum , 13 (5) pp. 588-595. (2014)

مصطلحات موضوعية: Benign hereditary chorea, Ataxia, Hypothyroidism, Pituitary gland, Thyroid transcription factor 1

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1433196/1/art%253A10.1007%252Fs12311-014-0570-7.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1433196Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1433196/1/art%253A10.1007%252Fs12311-014-0570-7.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1433196Test/

المؤلفون: PANICHI V, PASQUARIELLO A, INNOCENTI M, MANTUANO E, BEATI S, PAOLETTI S, CONSANI C, PUCCINI R, CASAROSA L, GATTAI V, FILIPPI C, MORICONI L, BARSOTTI G, RINDI P, PALLA R., MEOLA, Mario

المساهمون: Panichi, V, Pasquariello, A, Innocenti, M, Meola, Mario, Mantuano, E, Beati, S, Paoletti, S, Consani, C, Puccini, R, Casarosa, L, Gattai, V, Filippi, C, Moriconi, L, Barsotti, G, Rindi, P, Palla, R.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000251644700010; volume:20; issue:0; firstpage:329; lastpage:335; numberofpages:7; journal:JN. JOURNAL OF NEPHROLOGY; http://hdl.handle.net/11382/303013Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-35348835458

الإتاحة: http://hdl.handle.net/11382/303013Test

المؤلفون: SCACCHI, R., CORBO, R.M., RICKARDS, O., MANTUANO, E., GUEVARA, A., DE STEFANO, G.F.

المصدر: Human Biology, 1997 Jun 01. 69(3), 375-382.

الوصول الحر: https://www.jstor.org/stable/41465560Test

المؤلفون: Soligo M., Albini M., Bertoli F. L., Marzano V., Protto V., Bracci-Laudiero L., Minnone G., De Benedetti F., Chiaretti A., Mantuano E., Manni L.

المساهمون: Soligo, M., Albini, M., Bertoli, F. L., Marzano, V., Protto, V., Bracci-Laudiero, L., Minnone, G., De Benedetti, F., Chiaretti, A., Mantuano, E., Manni, L.

مصطلحات موضوعية: Ngf gene expression, p75 neurotrophin receptor, PC12 cell, pro-nerve growth factor, tropomyosine receptor kinase A

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31278975; info:eu-repo/semantics/altIdentifier/wos/WOS:000483908300043; volume:129; numberofpages:13; journal:NEUROCHEMISTRY INTERNATIONAL; http://hdl.handle.net/11573/1580540Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068454473

الإتاحة: https://doi.org/10.1016/j.neuint.2019.104498Test
http://hdl.handle.net/11573/1580540Test

المؤلفون: Rispoli M. G., Di Stefano V., Mantuano E., De Angelis M. V.

المساهمون: Rispoli M.G., Di Stefano V., Mantuano E., De Angelis M.V.

مصطلحات موضوعية: genetic screening / counselling, headache (including migraines), neuro genetics, neuroimaging, neurology, Aged, Diagnosis, Differential, Humans, Magnetic Resonance Imaging, Male, Migraine with Aura, Mutation, Missense, Neurologic Examination, Pedigree, Sodium-Potassium-Exchanging ATPase, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31586957; info:eu-repo/semantics/altIdentifier/wos/WOS:000661453100056; volume:12; issue:10; firstpage:1; lastpage:4; numberofpages:4; journal:BMJ CASE REPORT; http://hdl.handle.net/10447/520454Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072912755

الإتاحة: https://doi.org/10.1136/bcr-2019-231129Test
http://hdl.handle.net/10447/520454Test

المؤلفون: Iodice A., Carecchio M., Zorzi G., Garavaglia B., Spagnoli C., Salerno G. G., Frattini D., Mencacci N. E., Invernizzi F., Veneziano L., Mantuano E., Angriman M., Fusco C.

المساهمون: Iodice, A., Carecchio, M., Zorzi, G., Garavaglia, B., Spagnoli, C., Salerno, G. G., Frattini, D., Mencacci, N. E., Invernizzi, F., Veneziano, L., Mantuano, E., Angriman, M., Fusco, C.

مصطلحات موضوعية: ADCY5, Benign hereditary chorea, Levodopa, NKX2-1-related chorea, Restless legs syndrome, Adult, Brain, Child, Preschool, Chorea, Cohort Studie, Dopamine Agent, Family Health, Female, Human, Magnetic Resonance Imaging, Male, Mutation, Pituitary Gland, Thyroid Nuclear Factor 1

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30352709; info:eu-repo/semantics/altIdentifier/wos/WOS:000462417200006; volume:41; issue:3; firstpage:250; lastpage:256; numberofpages:7; journal:BRAIN & DEVELOPMENT; http://hdl.handle.net/11577/3313758Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055095313; www.elsevier.com/locate/braindev

الإتاحة: https://doi.org/10.1016/j.braindev.2018.10.001Test
http://hdl.handle.net/11577/3313758Test

المؤلفون: Mantuano, E, Veneziano, L, Spadaro, M, Giunti, P, Guida, S, Leggio, MG, Verriello, L, Wood, N, Frontali, M., IODICE, CARLA

المساهمون: Mantuano, E, Veneziano, L, Spadaro, M, Giunti, P, Guida, S, Leggio, M, Verriello, L, Wood, N, Iodice, C, Frontali, M

مصطلحات موضوعية: Adolescent, Male, Cerebellar Ataxia, Middle Aged, Mutation, Polymorphism, Single-Stranded Conformational, Female, Human, Sequence Homology, Amino Acid, Calcium Channels, N-Type, Aged, Molecular Sequence Data, Adult, Amino Acid Sequence, DNA Mutational Analysis, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000221780600026; volume:41; issue:6; firstpage:e82; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2108/31166Test

الإتاحة: https://doi.org/10.1136/jmg.2003.015396Test
http://hdl.handle.net/2108/31166Test

المؤلفون: Mantuano, E, Veneziano, L, Frontali, M., IODICE, CARLA

المساهمون: Mantuano, E, Veneziano, L, Iodice, C, Frontali, M

مصطلحات موضوعية: Allele, Calcium Channel, Point Mutation, Trinucleotide Repeat Expansion, Spinocerebellar Ataxia, Ataxia, Humans, Settore BIO/18 - GENETICA

العلاقة: volume:100; issue:1-4; firstpage:147; lastpage:153; journal:CYTOGENETIC AND GENOME RESEARCH; http://hdl.handle.net/2108/46279Test

الإتاحة: https://doi.org/10.1159/000072849Test
http://hdl.handle.net/2108/46279Test