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The expanding neurological phenotype of DNM1L-related disorders.
Published in:
2018
By:
- Wangler, Michael F.;
- Batzir, Nurit Assia;
- Robak, Laurie A.;
- Koenig, Mary K.;
- Bacino, Carlos A.;
- Scaglia, Fernando;
- Bellen, Hugo J.;
- Assia Batzir, Nurit
Publication type:
Letter
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Published in:
2017
By:
- Robak, Laurie A.;
- Jansen, Iris E.;
- van Rooij, Jeroen;
- Uitterlinden, André G.;
- Kraaij, Robert;
- Jankovic, Joseph;
- Heutink, Peter;
- Shulman, Joshua M.;
- International Parkinson’s Disease Genomics Consortium (IPDGC);
- IPDGC Consortium members
Publication type:
journal article
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
By:
- Keehan, Laura;
- Jiang, Ming‐Ming;
- Li, Xiaohui;
- Marom, Ronit;
- Dai, Hongzheng;
- Murdock, David;
- Liu, Pengfei;
- Hunter, Jill V.;
- Heaney, Jason D.;
- Robak, Laurie;
- Emrick, Lisa;
- Lotze, Timothy;
- Blieden, Lauren S.;
- Lewis, Richard Alan;
- Levin, Alex V.;
- Capasso, Jenina;
- Craigen, William J.;
- Rosenfeld, Jill A.;
- Lee, Brendan;
- Burrage, Lindsay C.
Publication type:
Article
Molecular Basis of the Interactions of the Nogo-66 Receptor and Its Homolog NgR2 with Myelin Associated Glycoprotein: Development of NgR<sup>OMNI</sup>-Fc, a Novel Antagonist of CNS Myelin Inhibition.
Published in:
Journal of Neuroscience, 2009, v. 29, n. 18, p. 5768, doi. 10.1523/JNEUROSCI.4935-08.2009
By:
- Robak, Laurie A.;
- Venkatesh, Karthik;
- Hakjoo Lee;
- Raiker, Stephen J.;
- Yuntao Duan;
- Lee-Osbourne, Jane;
- Hofer, Thomas;
- Mage, Rose G.;
- Rader, Christoph;
- Giger, Roman J.
Publication type:
Article
Synaptic Function for the Nogo-66 Receptor NgR1: Regulation of Dendritic Spine Morphology and Activity-Dependent Synaptic Strength.
Published in:
Journal of Neuroscience, 2008, v. 28, n. 11, p. 2753, doi. 10.1523/JNEUROSCI.5586-07.2008
By:
- Hakjoo Lee;
- Raiker, Stephen J.;
- Venkatesh, Karthik;
- Geary, Rebecca;
- Robak, Laurie A.;
- Yu Zhang;
- Yeh, Hermes H.;
- Shrager, Peter;
- Giger, Roman J.
Publication type:
Article
Whole-Exome Sequencing in Familial Parkinson Disease.
Published in:
JAMA Neurology, 2016, v. 73, n. 1, p. 68, doi. 10.1001/jamaneurol.2015.3266
By:
- Farlow, Janice L.;
- Robak, Laurie A.;
- Hetrick, Kurt;
- Bowling, Kevin;
- Boerwinkle, Eric;
- Coban-Akdemir, Zeynep H.;
- Gambin, Tomasz;
- Gibbs, Richard A.;
- Shen Gu;
- Jain, Preti;
- Jankovic, Joseph;
- Shalini Jhangiani;
- Kaw, Kaveeta;
- Dongbing Lai;
- Hai Lin;
- Hua Ling;
- Yunlong Liu;
- Lupski, James R.;
- Muzny, Donna;
- Porter, Paula
Publication type:
Article
ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1276, doi. 10.1002/acn3.51629
By:
- Thomas, Ajay X.;
- Link, Nichole;
- Robak, Laurie A.;
- Demmler‐Harrison, Gail;
- Pao, Emily C.;
- Squire, Audrey E.;
- Michels, Savannah;
- Cohen, Julie S.;
- Comi, Anne;
- Prontera, Paolo;
- Verrotti di Pianella, Alberto;
- Di Cara, Giuseppe;
- Garavelli, Livia;
- Caraffi, Stefano Giuseppe;
- Fusco, Carlo;
- Zuntini, Roberta;
- Parks, Kendall C.;
- Sherr, Elliott H.;
- Hashem, Mais O.;
- Maddirevula, Sateesh
Publication type:
Article
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 9, p. 1846, doi. 10.1093/hmg/ddw059
By:
- Yu-Hsin Chao;
- Robak, Laurie A.;
- Fan Xia;
- Koenig, Mary K.;
- Adesina, Adekunle;
- Bacino, Carlos A.;
- Scaglia, Fernando;
- Bellen, Hugo J.;
- Wangler, Michael F.
Publication type:
Article
The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome.
Published in:
Human Mutation, 2020, v. 41, n. 10, p. 1738, doi. 10.1002/humu.24075
By:
- Chen, Chun‐An;
- Crutcher, Emeline;
- Gill, Harinder;
- Nelson, Tanya N.;
- Robak, Laurie A.;
- Jongmans, Marjolijn C. J.;
- Pfundt, Rolph;
- Prasad, Chitra;
- Berard, Roberta A.;
- Fannemel, Madeleine;
- Frengen, Eirik;
- Misceo, Doriana;
- Ramsey, Keri;
- Yang, Yaping;
- Schaaf, Christian P.;
- Wang, Xia
Publication type:
Article

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