Concepedia

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Diane Doummar, Christel Dentel, Romane Lyautey, Julia Métreau, Boris Keren, Nathalie Drouot, Ludivine Malherbe, Viviane Bouilleret, Jérémie Courraud, Maria Paola Valenti‐Hirsch,

European Journal of Human Genetics · 2020 · 42 citations · 23 references

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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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A Human Dynamin-related Protein Controls the Distribution of Mitochondria

Dixie‐Lee Shurland, S.N. Ryazantsev, Alexander M. van der Bliek · The Journal of Cell Biology · 1998 · 726 citations · Full text

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Pin1, a new player in the fate of HIF-1α degradation: an hypothetical mechanism inside vascular damage as Alzheimer’s disease risk factor

Elena Lonati, Anna Maria Brambilla, Chiara Milani et al. · Frontiers in Cellular Neuroscience · 2014 · 348 citations · Full text

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Local and Long-Range Reciprocal Regulation of cAMP and cGMP in Axon/Dendrite Formation

Maya Shelly, Byung Kook Lim, Laura Cancedda et al. · Science · 2010 · 246 citations

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An inhibitory gate for state transition in cortex

Stefano Zucca, Giulia D’Urso, Valentina Pasquale et al. · eLife · 2017 · 169 citations · Full text

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