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Wyszukujesz frazę ""Scuderi, Carmela"" wg kryterium: Autor


Tytuł :
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
Autorzy :
Devaux, Jérôme
Efthymiou, Stephanie
Salpietro, Vincenzo
Malintan, Nancy
Poncelet, Mallory
Kriouile, Yamna
Fortuna, Sara
De Zorzi, Rita
Payne, Katelyn
Henderson, Lindsay
Cortese, Andrea
Maddirevula, Sateesh
Alhashmi, Nadia
Wiethoff, Sarah
Ryten, Mina
Botia, Juan
Provitera, Vincenzo
Schuelke, Markus
Vandrovcova, Jana
Groppa, Stanislav
Karashova, Blagovesta Marinova
Nachbauer, Wolfgang
Boesch, Sylvia
Arning, Larissa
Timmann, Dagmar
Cormand, Bru
Pérez-Dueñas, Belen
Goraya, Jatinder
Sultan, Tipu
Mine, Jun
Avdjieva, Daniela
Kathom, Hadil
Tincheva, Radka
Banu, Selina
Pineda-Marfa, Mercedes
Veggiotti, Pierangelo
Ferrari, Michel
Van Den Maagdenberg, Arn
Verrotti, Alberto
Marseglia, Giangluigi
Savasta, Salvatore
García-Silva, Mayte
Ruiz, Alfons Macaya
Garavaglia, Barbara
Portaro, Simona
Sanchez, Benigno Monteagudo
Boles, Richard
Papacostas, Savvas
Vikelis, Michail
Rothman, James
Kullmann, Dimitri
Papanicolaou, Eleni Zamba
Dardiotis, Efthymios
Maqbool, Shazia
Ibrahim, Shahnaz
Kirmani, Salman
Rana, Nuzhat Noureen
Atawneh, Osama
Lim, Shen-Yang
Shaikh, Farooq
Koutsis, George
Breza, Marianthi
Mangano, Salvatore
Scuderi, Carmela
Borgione, Eugenia
Morello, Giovanna
Stojkovic, Tanya
Zollo, Massimo
Heimer, Gali
Dauvilliers, Yves
Minetti, Carlo
Al-Khawaja, Issam
Al-Mutairi, Fuad
Hamed, Sherifa
Pipis, Menelaos
Bettencourt, Conceição
Rinaldi, Simon
Walsh, Laurence
Torti, Erin
Iodice, Valeria
Najafi, Maryam
Karimiani, Ehsan Ghayoor
Maroofian, Reza
Siquier-Pernet, Karine
Boddaert, Nathalie
De Lonlay, Pascale
Cantagrel, Vincent
Aguennouz, Mhammed
El Khorassani, Mohamed
Schmidts, Miriam
Alkuraya, Fowzan
Edvardson, Simon
Nolano, Maria
Devaux, Jerôme
Houlden, Henry
Pokaż więcej
Temat :
[SDV]Life Sciences [q-bio]
[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
[SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology
[SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Źródło :
Brain - A Journal of Neurology
Brain - A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩
Tytuł :
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
Autorzy :
Devaux, Jérôme
Efthymiou, Stephanie
Salpietro, Vincenzo
Malintan, Nancy
Poncelet, Mallory
Kriouile, Yamna
Fortuna, Sara
De Zorzi, Rita
Payne, Katelyn
Henderson, Lindsay
Cortese, Andrea
Maddirevula, Sateesh
Alhashmi, Nadia
Wiethoff, Sarah
Ryten, Mina
Botia, Juan
Provitera, Vincenzo
Schuelke, Markus
Vandrovcova, Jana
Groppa, Stanislav
Karashova, Blagovesta Marinova
Nachbauer, Wolfgang
Boesch, Sylvia
Arning, Larissa
Timmann, Dagmar
Cormand, Bru
Pérez-Dueñas, Belen
Goraya, Jatinder
Sultan, Tipu
Mine, Jun
Avdjieva, Daniela
Kathom, Hadil
Tincheva, Radka
Banu, Selina
Pineda-Marfa, Mercedes
Veggiotti, Pierangelo
Ferrari, Michel
Van Den Maagdenberg, Arn
Verrotti, Alberto
Marseglia, Giangluigi
Savasta, Salvatore
García-Silva, Mayte
Ruiz, Alfons Macaya
Garavaglia, Barbara
Portaro, Simona
Sanchez, Benigno Monteagudo
Boles, Richard
Papacostas, Savvas
Vikelis, Michail
Rothman, James
Kullmann, Dimitri
Papanicolaou, Eleni Zamba
Dardiotis, Efthymios
Maqbool, Shazia
Ibrahim, Shahnaz
Kirmani, Salman
Rana, Nuzhat Noureen
Atawneh, Osama
Lim, Shen-Yang
Shaikh, Farooq
Koutsis, George
Breza, Marianthi
Mangano, Salvatore
Scuderi, Carmela
Borgione, Eugenia
Morello, Giovanna
Stojkovic, Tanya
Zollo, Massimo
Heimer, Gali
Dauvilliers, Yves
Minetti, Carlo
Al-Khawaja, Issam
Al-Mutairi, Fuad
Hamed, Sherifa
Pipis, Menelaos
Bettencourt, Conceição
Rinaldi, Simon
Walsh, Laurence
Torti, Erin
Iodice, Valeria
Najafi, Maryam
Karimiani, Ehsan Ghayoor
Maroofian, Reza
Siquier-Pernet, Karine
Boddaert, Nathalie
De Lonlay, Pascale
Cantagrel, Vincent
Aguennouz, Mhammed
El Khorassani, Mohamed
Schmidts, Miriam
Alkuraya, Fowzan
Edvardson, Simon
Nolano, Maria
Devaux, Jerôme
Houlden, Henry
Pokaż więcej
Temat :
[SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology
[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
[SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
[SDV]Life Sciences [q-bio]
ComputingMilieux_MISCELLANEOUS
Źródło :
Brain - A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩
Brain - A Journal of Neurology
Tytuł :
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
Autorzy :
Borgione, Eugenia
Castello, Filippa
Lo Giudice, Mariangela
Santa Paola, Sandro
Salvatore, Simona
Berti, Gianna
Malandrini, Alessandro
Bottitta, Maria
Musumeci, Sebastiano Antonino
Scuderi, Carmela
Pokaż więcej
Źródło :
Neurological Sciences: Official Journal of the Italian Neurological Society. May 2016 37(5):805-807
Czasopismo naukowe
Tytuł :
The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?
Autorzy :
Borgione, Eugenia
Lo Giudice, Mariangela
Castello, Filippa
Musumeci, Sebastiano A.
Di Blasi, Francesco D.
Savio, Maria
Elia, Maurizio
Rizzo, Biagio
Barbarino, Giuliano
Romano, Salvatore
Calabrese, Giuseppe
Di Benedetto, Daniela
Scuderi, Carmela
Pokaż więcej
Źródło :
Neurological Sciences: Official Journal of the Italian Neurological Society. July 2013 34(7):1223-1226
Czasopismo naukowe
Tytuł :
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
Autorzy :
Zollo, Massimo
Ahmed, Mustafa
Ferrucci, Veronica
Salpietro, Vincenzo
Asadzadeh, Fatemeh
Carotenuto, Marianeve
Maroofian, Reza
Al-Amri, Ahmed
Singh, Royana
Scognamiglio, Iolanda
Mojarrad, Majid
Musella, Luca
Duilio, Angela
Di Somma, Angela
Karaca, Ender
Rajab, Anna
Al-Khayat, Aisha
Mohan Mohapatra, Tribhuvan
Eslahi, Atieh
Ashrafzadeh, Farah
Rawlins, Lettie E.
Prasad, Rajniti
Gupta, Rashmi
Kumari, Preeti
Srivastava, Mona
Cozzolino, Flora
Kumar Rai, Sunil
Monti, Maria
Harlalka, Gaurav V.
Simpson, Michael A.
Rich, Philip
Al-Salmi, Fatema
Patton, Michael A.
Chioza, Barry A.
Efthymiou, Stephanie
Granata, Francesca
Di Rosa, Gabriella
Wiethoff, Sarah
Borgione, Eugenia
Scuderi, Carmela
Mankad, Kshitij
Hanna, Michael G.
Pucci, Piero
Houlden, Henry
Lupski, James R.
Crosby, Andrew H.
Baple, Emma L.
Pokaż więcej
Temat :
Microcephaly
Normal brain development
microtubule polymerization, tubulinopathy
Microtubule polymerization
PRUNE1
microcephaly
developmental delay
normal brain development
Arts and Humanities (miscellaneous)
nervous system
Tubulinopathy
fungi
Original Articles
Clinical Neurology
Developmental delay
Medicine(all)
Źródło :
Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohapatra, T M, Eslahi, A, Ashrafzadeh, F, Rawlins, L E, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Rai, S K, Monti, M, Harlalka, G V, Simpson, M A, Rich, P, Al-Salmi, F, Patton, M A, Chioza, B A, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, M G, Pucci, P, Houlden, H, Lupski, J R, Crosby, A H & Baple, E L 2017, ' PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment ', Brain, vol. 140, no. 4, pp. 940-952 . https://doi.org/10.1093/brain/awx014
Opis pliku :
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