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RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Published in:
2020
By:
- Scala, Marcello;
- Mojarrad, Majid;
- Riazuddin, Saima;
- Brigatti, Karlla W;
- Ammous, Zineb;
- Cohen, Julie S;
- Hosny, Heba;
- Usmani, Muhammad A;
- Shahzad, Mohsin;
- Riazuddin, Sheikh;
- Stanley, Valentina;
- Eslahi, Atiye;
- Person, Richard E;
- Elbendary, Hasnaa M;
- Comi, Anne M;
- Poskitt, Laura;
- Salpietro, Vincenzo;
- Genomics, Queen Square;
- Rosenfeld, Jill A;
- Williams, Katie B
Publication type:
Letter
Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24358-4
By:
- de Jong, Job O.;
- Llapashtica, Ceyda;
- Genestine, Matthieu;
- Strauss, Kevin;
- Provenzano, Frank;
- Yan Sun;
- Huixiang Zhu;
- Cortese, Giuseppe P.;
- Brundu, Francesco;
- Brigatti, Karlla W.;
- Corneo, Barbara;
- Migliori, Bianca;
- Tomer, Raju;
- Kushner, Steven A.;
- Kellendonk, Christoph;
- Javitch, Jonathan A.;
- Bin Xu;
- Markx, Sander
Publication type:
Article
Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.
Published in:
Muscle & Nerve, 2022, v. 65, n. 1, p. 51, doi. 10.1002/mus.27425
By:
- Carson, Vincent J.;
- Young, Millie;
- Brigatti, Karlla W.;
- Robinson, Donna L.;
- Reed, Robert M.;
- Sohn, Jihee;
- Petrillo, Marco;
- Farwell, Wildon;
- Miller, Freeman;
- Strauss, Kevin A.
Publication type:
Article
Effects of genetic severity on glucose homeostasis in Friedreich ataxia.
Published in:
2016
By:
- Isaacs, Charles J.;
- Brigatti, Karlla W.;
- Kucheruk, Olena;
- Ratcliffe, Sarah;
- Sciascia, Tom;
- McCormack, Shana E.;
- Willi, Steven M.;
- Lynch, David R.
Publication type:
journal article
Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry.
Published in:
Liver International, 2022, v. 42, n. 7, p. 1593, doi. 10.1111/liv.15239
By:
- Aronson, Sem J.;
- Junge, Norman;
- Trabelsi, Mediha;
- Kelmemi, Wided;
- Hubert, Aurelie;
- Brigatti, Karlla W.;
- Fox, Michael D.;
- de Knegt, Robert J.;
- Escher, Johanna C.;
- Ginocchio, Virginia M.;
- Iorio, Raffaele;
- Zhu, Yan;
- Özçay, Figen;
- Rahim, Fakher;
- El‐Shabrawi, Mortada H.F.;
- Shteyer, Eyal;
- Di Giorgio, Angelo;
- D'Antiga, Lorenzo;
- Mingozzi, Federico;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Preemptive dual therapy for children at risk for infantile‐onset spinal muscular atrophy.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1868, doi. 10.1002/acn3.52093
By:
- Matesanz, Susan E.;
- Brigatti, Karlla W.;
- Young, Millie;
- Yum, Sabrina W.;
- Strauss, Kevin A.
Publication type:
Article
WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy.
Published in:
Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 1972, doi. 10.1002/acn3.51884
By:
- Strauss, Kevin A.;
- Carson, Vincent J.;
- Bolettieri, Emilienne;
- Everett, Mariah;
- Bollinger, Ashton;
- Bowser, Lauren E.;
- Beiler, Keturah;
- Young, Millie;
- Edvardson, Simon;
- Fraenkel, Nitay;
- D'Amico, Adele;
- Bertini, Enrico;
- Lingappa, Lokesh;
- Chowdhury, Devyani;
- Lowes, Linda P.;
- Iammarino, Megan;
- Alfano, Lindsay N.;
- Brigatti, Karlla W.
Publication type:
Article
Progression of Friedreich ataxia: quantitative characterization over 5 years.
Published in:
Annals of Clinical & Translational Neurology, 2016, v. 3, n. 9, p. 684, doi. 10.1002/acn3.332
By:
- Patel, Maya;
- Isaacs, Charles J.;
- Seyer, Lauren;
- Brigatti, Karlla;
- Gelbard, Sarah;
- Strawser, Cassandra;
- Foerster, Debbie;
- Shinnick, Julianna;
- Schadt, Kimberly;
- Yiu, Eppie M.;
- Delatycki, Martin B.;
- Perlman, Susan;
- Wilmot, George R.;
- Zesiewicz, Theresa;
- Mathews, Katherine;
- Gomez, Christopher M.;
- Yoon, Grace;
- Subramony, Sub H.;
- Brocht, Alicia;
- Farmer, Jennifer
Publication type:
Article
Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
Published in:
2022
By:
- Williams, Katie B.;
- Horst, Michael;
- Young, Millie;
- Pascua, Christine;
- Puffenberger, Erik G.;
- Brigatti, Karlla W.;
- Gonzaga-Jauregui, Claudia;
- Shuldiner, Alan R.;
- Gidding, Samuel;
- Strauss, Kevin A.;
- Chowdhury, Devyani
Publication type:
journal article
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 4, p. 525, doi. 10.1093/hmg/ddy344
By:
- Williams, Katie B;
- Brigatti, Karlla W;
- Puffenberger, Erik G;
- Gonzaga-Jauregui, Claudia;
- Griffin, Laurie B;
- Martinez, Erick D;
- Wenger, Olivia K;
- Yoder, Mark A;
- Kandula, Vinay V R;
- Fox, Michael D;
- Demczko, Matthew M;
- Poskitt, Laura;
- Furuya, Katryn N;
- Reid, Jeffrey G;
- Overton, John D;
- Baras, Aris;
- Miles, Lili;
- Radhakrishnan, Kadakkal;
- Carson, Vincent J;
- Antonellis, Anthony
Publication type:
Article
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 18, p. 3272, doi. 10.1093/hmg/ddy233
By:
- Fox, Michael D;
- Carson, Vincent J;
- Feng, Han-Zhong;
- Lawlor, Michael W;
- Gray, John T;
- Brigatti, Karlla W;
- Jin, J -P;
- Strauss, Kevin A
Publication type:
Article
Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants.
Published in:
Journal of Child Neurology, 2012, v. 27, n. 9, p. 1152, doi. 10.1177/0883073812448462
By:
- Regner, Sean R.;
- Wilcox, Nicholas S.;
- Friedman, Lisa S.;
- Seyer, Lauren A.;
- Schadt, Kim A.;
- Brigatti, Karlla W.;
- Perlman, Susan;
- Delatycki, Martin;
- Wilmot, George R.;
- Gomez, Christopher M.;
- Bushara, Khalaf O.;
- Mathews, Katherine D.;
- Subramony, S. H.;
- Ashizawa, Tetsuo;
- Ravina, Bernard;
- Brocht, Alicia;
- Farmer, Jennifer M.;
- Lynch, David R.
Publication type:
Article
Novel Diagnostic Paradigms for Friedreich Ataxia.
Published in:
Journal of Child Neurology, 2012, v. 27, n. 9, p. 1146, doi. 10.1177/0883073812448440
By:
- Brigatti, Karlla W.;
- Deutsch, Eric C.;
- Lynch, David R.;
- Farmer, Jennifer M.
Publication type:
Article
Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.
Published in:
PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0202104
By:
- Carson, Vincent J.;
- Puffenberger, Erik G.;
- Bowser, Lauren E.;
- Brigatti, Karlla W.;
- Young, Millie;
- Korulczyk, Dominika;
- Rodrigues, Ashlin S.;
- Loeven, KaLynn K.;
- Strauss, Kevin A.
Publication type:
Article
A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial.
Published in:
Movement Disorders, 2012, v. 27, n. 8, p. 1026, doi. 10.1002/mds.25058
By:
- Lynch, David R.;
- Willi, Steven M.;
- Wilson, Robert B.;
- Cotticelli, M. Grazia;
- Brigatti, Karlla W.;
- Deutsch, Eric C.;
- Kucheruk, Olena;
- Shrader, William;
- Rioux, Patrice;
- Miller, Guy;
- Hawi, Amale;
- Sciascia, Thomas
Publication type:
Article
Frataxin levels in peripheral tissue in Friedreich ataxia.
Published in:
Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 831, doi. 10.1002/acn3.225
By:
- Lazaropoulos, Michael;
- Dong, Yina;
- Clark, Elisia;
- Greeley, Nathaniel R.;
- Seyer, Lauren A.;
- Brigatti, Karlla W.;
- Christie, Carlton;
- Perlman, Susan L.;
- Wilmot, George R.;
- Gomez, Christoper M.;
- Mathews, Katherine D.;
- Yoon, Grace;
- Zesiewicz, Theresa;
- Hoyle, Chad;
- Subramony, Sub H.;
- Brocht, Alicia F.;
- Farmer, Jennifer M.;
- Wilson, Robert B.;
- Deutsch, Eric C.;
- Lynch, David R.
Publication type:
Article

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