Resultados de procura - Christine G. Spaeth
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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy por Sahar Esmaeeli Nieh, Maura R.Z. Madou, Minhajuddin Sirajuddin, Brieana Fregeau, Dianalee McKnight, Katrina W. Lexa, Jonathan B. Strober, Christine G. Spaeth, Barbara Hallinan, Nizar Smaoui, John Pappas, Thomas Andrew Burrow, Marie McDonald, Mariam Latibashvili, Esther Leshinsky‐Silver, Dorit Lev, Luba Blumkin, Ronald D. Vale, A. James Barkovich, Elliott H. Sherr
Publicado 2015Artigo -
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment por Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas, Christine G. Spaeth, Stéphanie Efthymiou, Pasquale Striano, Jana Vandrovcová, Maria Concetta Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marcé‐Grau, Miquel Raspall‐Chaure, Elena Martín‐Hernández, Federico Zara, Carlo Minetti, Oscar D. Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frédéric Tran Mau‐Them, Laurence Faivre, Francisco Martínez‐Azorín, Carlos E. Prada, Alfons Macaya, Dimitri M. Kullmann, James E. Rothman, Shyam S. Krishnakumar, Henry Houlden, Vincenzo Salpietro, Stéphanie Efthymiou, Yamna Kriouile, M. El Khorassani, M. Aguennouz, Blagovesta Marinova Karashova, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Lionel Van Maldergem, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Erica Pironti, Jatinder S. Goraya, Tipu Sultan, Salman Kirmani, Shahnaz Ibrahim, Farida Jan, Jun Mine, Selina Banu, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Barbara Garavaglia, Carmela Scuderi, Eugenia Borgione, Valeria Dipasquale, Maria Concetta Cutrupi, Simona Portaro, Benigno Monteagudo Sanchez, Mercedes Pineda-Marfa, Francina Munell, Alfons Macaya, Richard G. Boles, Gali Heimer, Savvas Papacostas, Andreea Manole, Nancy T. Malintan, M. Natalia Zanetti, Michael G. Hanna, James E. Rothman, Dimitri M. Kullmann, Henry Houlden
Publicado 2019Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Genetics
Medicine
Neuroscience
Atrophy
Bioinformatics
Brainstem
Cerebellar hypoplasia (non-human)
Cerebellum
Dandy–Walker syndrome
Encephalopathy
Exocytosis
Fetus
Gene
Hydrocephalus
Hypoplasia
Internal medicine
Membrane
Mutation
Pathology
Pediatrics
Posterior fossa
Pregnancy
Psychiatry
Radiology
Retrospective cohort study
SNAP25
SNARE complex
STX1A
Surgery