المؤلفون: Rogac M, Neubauer D, Leonardis L, Pecaric N, Meznaric M, Maver A, Sperl W, Garavaglia BM, Lamantea E, Peterlin B

المصدر: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 5-14 (2022)

مصطلحات موضوعية: exome-sequencing, magnetic resonance imaging (mri), mitochondrial disease (md), nijmegen mitochondrial disease criteria (mdc), muscle biopsy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1311-0160Test

الوصول الحر: https://doaj.org/article/285c4e26ee0b411688311fb7e252d1ceTest

المؤلفون: Rus, T, Kramberger, MG, Jakob, GB, Leonardis, L, Meznaric, M

المصدر: Acta neurologica Belgica. 122(6):1637-1639

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:147275229Test

المؤلفون: Rogac, M, Neubauer, D, Leonardis, L, Pecaric, N, Meznaric, M, Maver, A, Sperl, W, Garavaglia, BM, Lamantea, E, Peterlin, B

المصدر: Balkan Journal of Medical Genetics ; volume 24, issue 2, page 5-14 ; ISSN 1311-0160

الإتاحة: https://doi.org/10.2478/bjmg-2021-0019Test

المؤلفون: El-Hassar L., Amara A., Sanson B., Lacatus O., Amir Belhouchet A., Kroneman M., Claeys K., Plançon J. P., Rodolico C., Primiano G., Trojsi F., Filosto M., Mongini T. E., Bortolani S., Monforte M., Carraro E., Maggi L., Ricci F., Silani V., Orsucci D., Créange A., Péréon Y., Stojkovic T., van der Beek N. A. M. E., Toscano A., Pareyson D., Attarian S., Van den Bergh P. Y. K., Remiche G., Hoeijmakers J. G. J., Badrising U., Voermans N. C., Kaindl A. M., Schara-Schmidt U., Schoser B., Gazzerro E., Haberlová J., Voháňka S., Pál E., Molnar M. J., Leonardis L., Tournev I. L., Osorio A. N., Olivé M., Muelas N., Alonso-Perez J., Plá F., de Visser M., Siciliano G., Sacconi S.

المساهمون: El-Hassar, L., Amara, A., Sanson, B., Lacatus, O., Amir Belhouchet, A., Kroneman, M., Claeys, K., Plançon, J. P., Rodolico, C., Primiano, G., Trojsi, F., Filosto, M., Mongini, T. E., Bortolani, S., Monforte, M., Carraro, E., Maggi, L., Ricci, F., Silani, V., Orsucci, D., Créange, A., Péréon, Y., Stojkovic, T., van der Beek, N. A. M. E., Toscano, A., Pareyson, D., Attarian, S., Van den Bergh, P. Y. K., Remiche, G., Hoeijmakers, J. G. J., Badrising, U., Voermans, N. C., Kaindl, A. M., Schara-Schmidt, U., Schoser, B., Gazzerro, E., Haberlová, J., Voháňka, S., Pál, E., Molnar, M. J., Leonardis, L., Tournev, I. L., Osorio, A. N., Olivé, M., Muelas, N., Alonso-Perez, J., Plá, F., de Visser, M., Siciliano, G., Sacconi, S.

مصطلحات موضوعية: Covid-19, Europe, Telemedicine, neuromuscular diseases

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36373291; info:eu-repo/semantics/altIdentifier/wos/WOS:000948014800002; volume:10; issue:2; firstpage:173; lastpage:184; numberofpages:12; journal:JOURNAL OF NEUROMUSCULAR DISEASES; https://hdl.handle.net/11379/573505Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150079762

الإتاحة: https://doi.org/10.3233/JND-221525Test
https://hdl.handle.net/11379/573505Test

المؤلفون: Cortese, A, Tozza, S, Yau, WY, Rossi, S, Beecroft, SJ, Jaunmuktane, Z, Dyer, Z, Ravenscroft, G, Lamont, PJ, Mossman, S, Chancellor, A, Maisonobe, T, Pereon, Y, Cauquil, C, Colnaghi, S, Mallucci, G, Curro, R, Tomaselli, PJ, Thomas-Black, G, Sullivan, R, Efthymiou, S, Rossor, AM, Laurá, M, Pipis, M, Horga, A, Polke, J, Kaski, D, Horvath, R, Chinnery, PF, Marques, W, Tassorelli, C, Devigili, G, Leonardis, L, Wood, NW, Bronstein, A, Giunti, P, Züchner, S, Stojkovic, T, Laing, N, Roxburgh, RH, Houlden, H, Reilly, MM

المصدر: Brain , 143 (2) pp. 480-490. (2020)

مصطلحات موضوعية: RFC1, cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), chronic cough, repeat expansion, sensory neuropathy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10091785/1/awz418.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10091785Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10091785/1/awz418.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10091785Test/

المؤلفون: Stalberg, E, Sanders, DB, Ali, S, Cooray, G, Leonardis, L, Loseth, S, Machado, F, Maldonado, A, Martinez-Aparicio, C, Sandberg, A, Smith, B, Widenfalk, J, Kouyoumdjian, JA

المصدر: Muscle & nerve. 53(3):351-362

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:132964020Test

المؤلفون: Comellas, L Costa, Sánchez-Montáñez, Á, Maggi, L., Díaz-Manera, J., D'Amico, A., Pichiecchio, A., Pegoraro, E., Monforte, M., Løkken, N., Marini-Bettolo, C., Vlodavets, D., Walter, M., Voermans, N., Monges, S., Claeys, K., Bevilacqua, J., Alonso, J., Comi, G., Bruno, C., Leonardis, L., Straub, V., Quijano-Roy, S., Carlier, R Yves, Vissing, J., Mercuri, E., Bertini, E., Gomez-Andres, D., Munell, F., Tasca, G.

المصدر: Neuromuscular Disorders ; volume 33, page S77 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2023.07.055Test
https://api.elsevier.com/content/article/PII:S0960896623002353?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623002353?httpAccept=text/plainTest

المؤلفون: Butinar, D, Zidar, J, Leonardis, L, Popovic, M, Kalaydjieva, L, Angelicheva, D, Sininger, Y, Keats, B, Starr, A

المصدر: Annals of neurology. 46(1)

مصطلحات موضوعية: Chromosomes, Human, Pair 8, Humans, Genetic Markers, Acoustic Stimulation, Pedigree, Evoked Potentials, Auditory, Brain Stem, Genotype, Adult, Slovenia, Hereditary Sensory and Motor Neuropathy, Roma, Neurology & Neurosurgery, Clinical Sciences, Neurosciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8mp4k6ggTest

المؤلفون: Kovanda, A, Leonardis, L, Zidar, J, Koritnik, B, Dolenc-Groselj, L, Ristic Kovacic, S, Curk, T, Rogelj, B

المصدر: Scientific Reports , 8 , Article 5609. (2018)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10063981/1/Kovanda_s41598-018-23139-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10063981Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10063981/1/Kovanda_s41598-018-23139-2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10063981Test/

المؤلفون: Curci A., Leonardis L. D., Lanciano T., Basile P.

المساهمون: Curci, A., Leonardis, L. D., Lanciano, T., Basile, P.

مصطلحات موضوعية: emotional disclosure, expressive writing, prison, sentiment analysi, subjective well-being, writing paradigm

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000686667500006; volume:134; issue:1; firstpage:75; lastpage:91; numberofpages:17; journal:THE AMERICAN JOURNAL OF PSYCHOLOGY; http://hdl.handle.net/11586/377091Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103707243

الإتاحة: https://doi.org/10.5406/AMERJPSYC.134.1.0075Test
http://hdl.handle.net/11586/377091Test