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The expanding neurological phenotype of DNM1L -related disorders

Wangler, Michael F ; Assia Batzir, Nurit ; Robak, Laurie A ; Koenig, Mary K ; Bacino, Carlos A ; Scaglia, Fernando ; Bellen, Hugo J

Brain, 2018, Vol. 141(4), pp.e28-e28 [Periódico revisado por pares]

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Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Robak, Laurie A ; Jansen, Iris E ; Van Rooij, Jeroen ; Uitterlinden, André G ; Kraaij, Robert ; Jankovic, Joseph ; Heutink, Peter ; Shulman, Joshua M

Brain, 2017, Vol. 140(12), pp.3191-3203 [Periódico revisado por pares]

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Kury, Sébastien ; van Woerden, Geeske ; Besnard, Thomas ; Onori, Martina ; Latypova, Xenia ; Towne, Meghan ; Cho, Megan ; Prescott, Trine ; Ploeg, Melissa ; Sanders, Stephan ; Stessman, Holly ; Pujol, Aurora ; Distel, Ben ; Robak, Laurie ; Bernstein, Jonathan ; Denommé-Pichon, Anne-Sophie ; Lesca, Gaetan ; Sellars, Elizabeth Université D'Angers, Okina (Editor)

American journal of human genetics, 2017, Vol.101, pp.768-788 [Periódico revisado por pares]

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, Sébastien ; van Woerden, Geeske M ; Besnard, Thomas ; Proietti Onori, Martina ; Latypova, Xénia ; Towne, Meghan C ; Cho, Megan T ; Prescott, Trine E ; Ploeg, Melissa A ; Sanders, Stephan ; Stessman, Holly A.F ; Pujol, Aurora ; Distel, Ben ; Robak, Laurie A ; Bernstein, Jonathan A ; Denommé-Pichon, Anne-Sophie Undiagnosed Diseases Network (Corporate Author) ; Gem HUGO (Corporate Author) ; Deciphering Developmental Disorders Study (Corporate Author)

The American Journal of Human Genetics, 02 November 2017, Vol.101(5), pp.768-788 [Periódico revisado por pares]

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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Yan, Kezhi ; Rousseau, Justine ; Littlejohn, Rebecca Okashah ; Kiss, Courtney ; Lehman, Anna ; Rosenfeld, Jill A ; Stumpel, Constance T.R ; Stegmann, Alexander P.A ; Robak, Laurie ; Scaglia, Fernando ; Nguyen, Thi Tuyet Mai ; Fu, He ; Ajeawung, Norbert F ; Camurri, Maria Vittoria ; Li, Lin ; Gardham, Alice ; Panis, Bianca ; Almannai, Mohammed ; Sacoto, Maria J. Guillen ; Baskin, Berivan Ddd Study (Corporate Author) ; Causes Study (Corporate Author)

The American Journal of Human Genetics, 05 January 2017, Vol.100(1), pp.91-104 [Periódico revisado por pares]

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6
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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila

Chao, Yu - Hsin ; Robak, Laurie A ; Xia, Fan ; Koenig, Mary K ; Adesina, Adekunle ; Bacino, Carlos A ; Scaglia, Fernando ; Bellen, Hugo J ; Wangler, Michael F

Human Molecular Genetics, 2016, Vol. 25(9), pp.1846-1856 [Periódico revisado por pares]

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7
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Whole-Exome Sequencing in Familial Parkinson Disease

Farlow, Janice L ; Robak, Laurie A ; Hetrick, Kurt ; Bowling, Kevin ; Boerwinkle, Eric ; Coban-Akdemir, Zeynep H ; Gambin, Tomasz ; Gibbs, Richard A ; Gu, Shen ; Jain, Preti ; Jankovic, Joseph ; Jhangiani, Shalini ; Kaw, Kaveeta ; Lai, Dongbing ; Lin, Hai ; Ling, Hua ; Liu, Yunlong ; Lupski, James R ; Muzny, Donna ; Porter

JAMA neurology, January 2016, Vol.73(1), pp.68-75 [Periódico revisado por pares]

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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Mao, Dongxue ; Reuter, Chloe M ; Ruzhnikov, Maura R.Z ; Beck, Anita E ; Farrow, Emily G ; Emrick, Lisa T ; Rosenfeld, Jill A ; Mackenzie, Katherine M ; Robak, Laurie ; Wheeler, Matthew T ; Burrage, Lindsay C ; Jain, Mahim ; Liu, Pengfei ; Calame, Daniel ; Küry, Sébastien ; Sillesen, Martin ; Schmitz-Abe, Klaus ; Tonduti, Davide Undiagnosed Diseases Network (Corporate Author)

The American Journal of Human Genetics, 02 April 2020, Vol.106(4), pp.570-583 [Periódico revisado por pares]

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Mechanisms of CNS myelin inhibition: evidence for distinct and neuronal cell type specific receptor systems

Giger, Roman J ; Venkatesh, Karthik ; Chivatakarn, Onanong ; Raiker, Stephen J ; Robak, Laurie ; Hofer, Thomas ; Lee, Hakjoo ; Rader, Christoph

Restorative neurology and neuroscience, 2008, Vol.26(2-3), pp.97-115 [Periódico revisado por pares]

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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Blauwendraat, Cornelis ; Faghri, Faraz ; Pihlstrom, Lasse ; Geiger, Joshua T ; Elbaz, Alexis ; Lesage, Suzanne ; Corvol, Jean-Christophe ; May, Patrick ; Nicolas, Aude ; Abramzon, Yevgeniya ; Murphy, Natalie A ; Gibbs, J Raphael ; Ryten, Mina ; Ferrari, Raffaele ; Bras, Jose ; Guerreiro, Rita ; Williams, Julie ; Sims, Rebecca ; Lubbe, Steven ; Hernandez

Neurobiology of aging, September 2017, Vol.57, pp.247.e9-247.e13 [Periódico revisado por pares]

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Deste Autor:

  1. Robak, Laurie
  2. Robak, Laurie A
  3. Scaglia, Fernando
  4. Ryten, Mina
  5. Brice, Alexis

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