검색어 : 통합검색[Neurogenetics]
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951
- Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings
- Caylor, R. C.; Grote, L.; Thiffault, I.; Farrow, E. G.; Willig, L.; Soden, S.; Amudhavalli, S. M.; Nopper, A. J.; Horii, K. A.; Fleming, E.; Jenkins, J.; Welsh, H.; Ilyas, M.; Engleman, K.; Abdelmoity, A.; Saunders, C. J.; ; (Neurogenetics, v.19, 2018, pp.261-262)
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952
- Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
- Auranen, Mari; Ylikallio, Emil; Toppila, Jussi; Somer, Mirja; Kiuru-Enari, Sari; Tyynismaa, Henna; ; (Neurogenetics, v.14, 2013, pp.123-132)
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953
- The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms
- Cannas, Antonino; Borghero, Giuseppe; Floris, Gian Luca; Solla, Paolo; Chiò , Adriano; Traynor, Bryan J.; Calvo, Andrea; Restagno, Gabriella; Majounie, Elisa; Costantino, Emanuela; Piras, Valeria; Lavra, Loredana; Pani, Carla; Orofino, Gianni; Di Stefano, Francesca; Tacconi, Paolo; Mascia, Marcello Mario; Muroni, Antonella; Murru, Maria Rita; Tranquilli, Stefania; Corongiu, Daniela; Rolesu, Marcella; Cuccu, Stefania; Marrosu, Francesco; Marrosu, Maria Giovanna; ; (Neurogenetics, v.14, 2013, pp.161-166)
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954
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman
- Borgulová , I.; Mazanec, R.; Sakmaryová , I.; Havlová , M.; Š afka Brož ková , D.; Seeman, P.; ; (Neurogenetics, v.14, 2013, pp.189-195)
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955
- SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement
- Manole, Andreea; Horga, Alejandro; Gamez, Josep; Raguer, Nuria; Salvado, Maria; San Millá n, Beatriz; Navarro, Carmen; Pittmann, Alan; Reilly, Mary M.; Houlden, Henry; ; (Neurogenetics, v.18, 2017, pp.63-67)
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956
- Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
- Sá nchez-Iglesias, Sofí a; Crocker, Melissa; O’Callaghan, Mar; Darling, Alejandra; Garcí a-Cazorla, Angels; Domingo-Jimé nez, Rosario; Castro, Ana; Ferná ndez-Pombo, Antí a; Ruibal, Á lvaro; Aguiar, Pablo; Garrido-Pumar, Miguel; Rodrí guez-Nú ñ ez, Antonio; Á lvarez-Escudero, Juliá n; Brown, Rebecca J.; Araú jo-Vilar, David; ; (Neurogenetics, v.20, 2019, pp.73-82)
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957
- Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
- Brankovic, Marija; Ivanovic, Vukan; Basta, Ivana; Khang, Rin; Lee, Eugene; Stevic, Zorica; Ralic, Branislav; Tubic, Radoje; Seo, GoHun; Markovic, Vladana; Bozovic, Ivo; Svetel, Marina; Marjanovic, Ana; Veselinovic, Nikola; Mesaros, Sarlota; Jankovic, Milena; Savic-Pavicevic, Dusanka; Jovin, Zita; Novakovic, Ivana; Lee, Hane; Peric, Stojan; ; (Neurogenetics, v.25, 2024, pp.165-177)
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958
- Two more families supporting the existence of monogenic spinocerebellar ataxia 48
- Palombo, Flavia; Vaisfeld, Alessandro; Tropeano, Valentina Concetta; Ormanbekova, Danara; Bacchi, Isabelle; Fiorini, Claudio; Peruzzi, Adelaide; Morandi, Luca; Liguori, Rocco; Carelli, Valerio; Rizzo, Giovanni; ; (Neurogenetics, v.25, 2024, pp.277-280)
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959
- Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature
- Cesaroni, Carlo Alberto; Contrò , Gianluca; Spagnoli, Carlotta; Cancelliere, Federica; Caraffi, Stefano Giuseppe; Leon, Alberta; Stefanini, Camilla; Frattini, Daniele; Rizzi, Susanna; Cavalli, Anna; Garavelli, Livia; Fusco, Carlo; ; (Neurogenetics, v.25, 2024, pp.287-291)
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960
- Identification of established and novel extracellular matrix components in glioblastoma as targets for angiogenesis and prognosis
- Barbosa, Lucas Cunha; Machado, Gabriel Cardoso; Heringer, Manoela; Ferrer, Valé ria Pereira; ; (Neurogenetics, v.25, 2024, pp.249-262)
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