يعرض 1 - 20 نتائج من 153 نتيجة بحث عن '"Ajmar, Franco"', وقت الاستعلام: 0.46s تنقيح النتائج
  1. 1
    Academic Journal
    NAD(P) Glycohydrolase Deficiency in Human Erythrocytes and Alteration of Cytosol NADH-Methemoglobin Diaphorase by Membrane NAD-Glycohydrolase Activity

    المؤلفون: Frischer, Henri, Nelson, Richard, Noyes, Claudia, Carson, Paul E., Bowman, James E., Rieckmann, Karl H., Ajmar, Franco

    المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1973 Aug 01. 70(8), 2406-2410.

    URL الوصول: https://www.jstor.org/stable/63017

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  2. 2
    Academic Journal
    Interrelation of Stromal NAD(P)ase and Human Erythrocytic 6-Phosphogluconic Dehydrogenase

    المؤلفون: Ajmar, Franco, Scharrer, Barbara, Hashimoto, Fred, Carson, Paul E.

    المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1968 Feb . 59(2), 538-545.

    URL الوصول: https://www.jstor.org/stable/58674

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  3. 3
    Academic Journal
    An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP

    المؤلفون: Bellone, Emilia, Balestra, Piercesare, Ribizzi, Giuseppe, Schenone, Angelo, Zocchi, Gianna, Di Maria, Emilio, Ajmar, Franco, Mandich, Paola

    مصطلحات موضوعية: Short reports

    وصف الملف: text/html

    Relation: http://jnnp.bmj.com/cgi/content/short/jnnp.2005.075242v1; http://dx.doi.org/10.1136/jnnp.2005.075242

    الاتاحة: http://jnnp.bmj.com/cgi/content/short/jnnp.2005.075242v1
    https://doi.org/10.1136/jnnp.2005.075242

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  4. 4
    Academic Journal
    Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease

    المؤلفون: Novelletto, Andrea, Persichetti, Francesca, Sabbadin, Guglielmo, Mandich, Paola, Bellone, Emilia, Ajmar, Franco, Pergola, Mariano, Senno, Laura Del, E.MacDonald, Marcy, F.Gusella, James, Frontall, Marina

    مصطلحات موضوعية: ARTICLES

    وصف الملف: text/html

    Relation: http://hmg.oxfordjournals.org/cgi/content/short/3/1/93; http://dx.doi.org/10.1093/hmg/3.1.93

    الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/3/1/93
    https://doi.org/10.1093/hmg/3.1.93

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  5. 5
    Academic Journal
    Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease

    المؤلفون: Novelletto, Andrea, Persichetti, Francesca, Sabbadini, Guglielmo, Mandich, Paola, Bellone, Emilia, Ajmar, Franco, Squitieri, F., Campanella, G., Bozza, Angela, MacDonald, Marcy E., Gusella, James F., Frontali, Marina

    مصطلحات موضوعية: REPORTS

    وصف الملف: text/html

    Relation: http://hmg.oxfordjournals.org/cgi/content/short/3/7/1129; http://dx.doi.org/10.1093/hmg/3.7.1129

    الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/3/7/1129
    https://doi.org/10.1093/hmg/3.7.1129

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  6. 6
    Academic Journal
    An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP

    المؤلفون: BELLONE, EMILIA, SCHENONE, ANGELO, DI MARIA, EMILIO, AJMAR, FRANCO, MANDICH, PAOLA, BALESTRA P, RIBIZZI G, ZOCCHI G

    المساهمون: Bellone, Emilia, Balestra, P, Ribizzi, G, Schenone, Angelo, Zocchi, G, DI MARIA, Emilio, Ajmar, Franco, Mandich, Paola

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000236701400029; volume:77; firstpage:538; lastpage:540; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; http://hdl.handle.net/11567/245728; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33645577579

    الاتاحة: http://hdl.handle.net/11567/245728

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  7. 7
    Academic Journal
    Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation

    المؤلفون: SESSA A., BATTINI G., MERONI M., PITINGOLO F., RIGHETTI M., CIOTTI P., DI MARIA, EMILIO, BELLONE, EMILIA, AJMAR, FRANCO, MANDICH, PAOLA

    المساهمون: Sessa, A., Battini, G., Meroni, M., Pitingolo, F., Righetti, M., Ciotti, P., DI MARIA, Emilio, Bellone, Emilia, Ajmar, Franco, Mandich, Paola

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000229459700015; volume:18; firstpage:209; lastpage:212; journal:JN. JOURNAL OF NEPHROLOGY; http://hdl.handle.net/11567/247099; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-20744439549

    الاتاحة: http://hdl.handle.net/11567/247099

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  8. 8
    Academic Journal
    A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease

    المؤلفون: SANTORO L., MANGANELLI F., DI MARIA, EMILIO, BORDO D., CASSANDRINI D., AJMAR, FRANCO, MANDICH, PAOLA, BELLONE, EMILIA

    المساهمون: Santoro, L., Manganelli, F., DI MARIA, Emilio, Bordo, D., Cassandrini, D., Ajmar, Franco, Mandich, Paola, Bellone, Emilia

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/pmid/14742601; info:eu-repo/semantics/altIdentifier/wos/WOS:000188393600019; volume:75; firstpage:262; lastpage:265; numberofpages:4; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; https://hdl.handle.net/11567/248519; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0842287606

    الاتاحة: https://hdl.handle.net/11567/248519

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  9. 9
    Academic Journal
    Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor

    المؤلفون: PIGULLO S., DE LUCA A., BARONE P., MARCHESE R., COLOSIMO A., SCAGLIONE C., MARTINELLI P., PIZZUTI A., DALLAPICCOLA B., BELLONE, EMILIA, DI MARIA, EMILIO, ABBRUZZESE, GIOVANNI, AJMAR, FRANCO, MANDICH, PAOLA

    المساهمون: Pigullo, S., DE LUCA, A., Barone, P., Marchese, R., Bellone, Emilia, Colosimo, A., Scaglione, C., Martinelli, P., DI MARIA, Emilio, Pizzuti, A., Abbruzzese, Giovanni, Dallapiccola, B., Ajmar, Franco, Mandich, Paola

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000223285800004; volume:10; firstpage:357; lastpage:362; numberofpages:6; journal:PARKINSONISM & RELATED DISORDERS; http://hdl.handle.net/11567/245111; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-3242703258

    الاتاحة: http://hdl.handle.net/11567/245111

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  10. 10
    Academic Journal
    A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect

    المؤلفون: DI MARIA, EMILIO, SCHENONE, ANGELO, AJMAR, FRANCO, MANDICH, PAOLA, BELLONE, EMILIA, GULLI R., BALESTRA P., CASSANDRINI D., PIGULLO S., DORIA LAMBA L., BADO M.

    المساهمون: DI MARIA, Emilio, Gulli, R., Balestra, P., Cassandrini, D., Pigullo, S., DORIA LAMBA, L., Bado, M., Schenone, Angelo, Ajmar, Franco, Mandich, Paola, Bellone, Emilia

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000223896400033; volume:75; firstpage:1495; lastpage:1498; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; http://hdl.handle.net/11567/265387; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-4644299868

    الاتاحة: http://hdl.handle.net/11567/265387

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  11. 11
    Academic Journal
    Does parkin play a role in the peripheral nervous system? A family report

    المؤلفون: ABBRUZZESE, GIOVANNI, SCHENONE, ANGELO, BELLONE, EMILIA, DI MARIA, EMILIO, NOBBIO, LUCILLA, AJMAR, FRANCO, MANDICH, PAOLA, PIGULLO S., MARCHESE R., BENEDETTI L., CIOTTI P., BONIFATI V.

    المساهمون: Abbruzzese, Giovanni, Pigullo, S., Schenone, Angelo, Bellone, Emilia, Marchese, R., DI MARIA, Emilio, Benedetti, L., Ciotti, P., Nobbio, Lucilla, Bonifati, V., Ajmar, Franco, Mandich, Paola

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000223313200020; volume:19(8); firstpage:978; lastpage:981; numberofpages:4; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11567/247870; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-4444276360

    الاتاحة: http://hdl.handle.net/11567/247870

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  12. 12
    Academic Journal
    Essential tremor is not associated with alpha-synuclein gene haplotypes

    المؤلفون: PIGULLO S., MARCHESE R., GULLI R., SCAGLIONE C., BATTAGLIA S., BARONE P., MARTINELLI P., DI MARIA, EMILIO, BELLONE, EMILIA, ABBRUZZESE, GIOVANNI, AJMAR, FRANCO, MANDICH, PAOLA

    المساهمون: Pigullo, S., DI MARIA, Emilio, Marchese, R., Bellone, Emilia, Gulli, R., Scaglione, C., Battaglia, S., Barone, P., Martinelli, P., Abbruzzese, Giovanni, Ajmar, Franco, Mandich, Paola

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000184148300013; volume:18; firstpage:823; lastpage:826; numberofpages:4; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11567/250576; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-10744230558

    الاتاحة: http://hdl.handle.net/11567/250576

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  13. 13
    Academic Journal
    A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci.

    المؤلفون: BELLONE, EMILIA, DI MARIA, EMILIO, AJMAR, FRANCO, MANDICH, PAOLA, RODOLICO C., TOSCANO A., CASSANDRINI D., PIZZUTI A., PIGULLO S., MAZZEO A., MACAIONE V., GIRLANDA P., VITA G.

    المساهمون: Bellone, Emilia, Rodolico, C., Toscano, A., DI MARIA, Emilio, Cassandrini, D., Pizzuti, A., Pigullo, S., Mazzeo, A., Macaione, V., Girlanda, P., Vita, G., Ajmar, Franco, Mandich, Paola

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000173728700008; volume:12; firstpage:286; lastpage:291; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11567/244511; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0036173752

    الاتاحة: http://hdl.handle.net/11567/244511

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  14. 14
    Academic Journal
    Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients

    المؤلفون: ORIGONE P., DE LUCA A., BELLINI C., BUCCINO A., MINGARELLI R., COSTABEL S., LA ROSA C., DALLAPICCOLA B., GARRE', CECILIA, COVIELLO, DOMENICO, AJMAR, FRANCO, BONIOLI, EUGENIO

    المساهمون: Origone, P., DE LUCA, A., Bellini, C., Buccino, A., Mingarelli, R., Costabel, S., LA ROSA, C., Garre', Cecilia, Coviello, Domenico, Ajmar, Franco, Dallapiccola, B., Bonioli, Eugenio

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/pmid/12112660.; volume:20 (1); firstpage:74; lastpage:75; journal:HUMAN MUTATION; http://hdl.handle.net/11567/247282

    الاتاحة: http://hdl.handle.net/11567/247282
    https://doi.org/10.1002/humu.9039

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  15. 15
    Academic Journal
    No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patient

    المؤلفون: PIGULLO S., MARCHESE R., ASSINI A., SCAGLIONE C., VITALE C., BONUCCELLI U., BARONE P., MARTINELLI P., ABBRUZZESE G., DI MARIA, EMILIO, BELLONE, EMILIA, AJMAR, FRANCO, MANDICH, PAOLA

    المساهمون: Pigullo, S., DI MARIA, Emilio, Marchese, R., Assini, A., Bellone, Emilia, Scaglione, C., Vitale, C., Bonuccelli, U., Barone, P., Ajmar, Franco, Martinelli, P., Abbruzzese, G., Mandich, Paola

    وصف الملف: STAMPA

    Relation: volume:108; firstpage:297; lastpage:304; journal:JOURNAL OF NEURAL TRANSMISSION; http://hdl.handle.net/11567/250158; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0034900173

    الاتاحة: http://hdl.handle.net/11567/250158

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  16. 16
    Academic Journal
    Clinical and genetic study of essential tremor in the Italian population.

    المؤلفون: ABBRUZZESE, GIOVANNI, DI MARIA, EMILIO, BELLONE, EMILIA, AJMAR, FRANCO, MANDICH, PAOLA, S. Pigullo, P. Martinelli, P. Barone, R. Marchese, C. Scaglione, A. Assini, C. Lucetti, A. Berardelli, S. Calzetti

    المساهمون: Abbruzzese, Giovanni, S., Pigullo, DI MARIA, Emilio, P., Martinelli, P., Barone, R., Marchese, C., Scaglione, A., Assini, C., Lucetti, A., Berardelli, S., Calzetti, Bellone, Emilia, Ajmar, Franco, Mandich, Paola

    مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Aged, 80 and over, Chromosome Mapping, Chromosome, Human, Pair 2, genetics, Pair 3, DNA Mutational Analysis, Essential Tremor, genetics/physiopathology, Female, Genetic Marker, Genetic Testing, Humans, Italy, Male, Middle Aged, Phenotype, Tandem Repeat Sequence

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/pmid/11487191.; volume:22; firstpage:39; lastpage:40; numberofpages:2; journal:NEUROLOGICAL SCIENCES; http://hdl.handle.net/11567/286262; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-18044399568

    الاتاحة: http://hdl.handle.net/11567/286262

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  17. 17
    Academic Journal
    Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

    المؤلفون: DI MARIA, EMILIO, TABATON, MASSIMO, VIGO T., ABBRUZZESE, GIOVANNI, BELLONE, EMILIA, DONATI C., FRASSON E., MARCHESE R., MONTAGNA P., MUNOZ D. G., PRAMSTALLER P. P., ZANUSSO G., AJMAR, FRANCO, MANDICH, PAOLA

    المساهمون: DI MARIA, Emilio, Tabaton, Massimo, Vigo, T., Abbruzzese, Giovanni, Bellone, Emilia, Donati, C., Frasson, E., Marchese, R., Montagna, P., Munoz, D. G., Pramstaller, P. P., Zanusso, G., Ajmar, Franco, Mandich, Paola

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/pmid/10716259; info:eu-repo/semantics/altIdentifier/wos/WOS:000085731700015; volume:47; firstpage:374; lastpage:377; numberofpages:4; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11567/246765; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0034011659

    الاتاحة: http://hdl.handle.net/11567/246765

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  18. 18
    Academic Journal
    The Genoa experience of prenatal diagnosis in NF1

    المؤلفون: ORIGONE, PAOLA, BONIOLI, EUGENIO, AJMAR, FRANCO, COVIELLO, DOMENICO, PANUCCI E, COSTABEL S.

    المساهمون: Origone, Paola, Bonioli, Eugenio, Panucci, E, Costabel, S., Ajmar, Franco, Coviello, Domenico

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/pmid/11015700.; volume:20; firstpage:719; lastpage:724; journal:PRENATAL DIAGNOSIS; http://hdl.handle.net/11567/194338

    الاتاحة: http://hdl.handle.net/11567/194338

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  19. 19
    Academic Journal
    A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.

    المؤلفون: BELLONE, EMILIA, DI MARIA, EMILIO, AJMAR, FRANCO, MANDICH, PAOLA, Soriani S, Varese A, Doria LL

    المساهمون: Bellone, Emilia, DI MARIA, Emilio, Soriani, S, Varese, A, Doria, Ll, Ajmar, Franco, Mandich, Paola

    وصف الملف: STAMPA

    Relation: volume:14; firstpage:353; lastpage:354; journal:HUMAN MUTATION; http://hdl.handle.net/11567/286653

    الاتاحة: http://hdl.handle.net/11567/286653

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  20. 20
    Academic Journal
    Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II

    المؤلفون: MANDICH, PAOLA, BELLONE, EMILIA, DI MARIA, EMILIO, SCHENONE, ANGELO, AJMAR, FRANCO, PIGULLO S., PIZZUTI A., SORIANI S., VARESE A., WINDEBANK A.J.

    المساهمون: Mandich, Paola, Bellone, Emilia, DI MARIA, Emilio, Pigullo, S., Pizzuti, A., Schenone, Angelo, Soriani, S., Varese, A., Windebank, A. J., Ajmar, Franco

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000079596100013; volume:83; firstpage:409; lastpage:410; journal:AMERICAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11567/250624; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0033597288

    الاتاحة: http://hdl.handle.net/11567/250624

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