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Long-Term Clinical Course of Glut1 Deficiency Syndrome.
Published in:
Journal of Child Neurology, 2015, v. 30, n. 2, p. 160, doi. 10.1177/0883073814531822
By:
- Alter, Aliza S.;
- Engelstad, Kristin;
- Hinton, Veronica J.;
- Montes, Jacqueline;
- Pearson, Toni S.;
- Akman, Cigdem I.;
- De Vivo, Darryl C.
Publication type:
Article
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Published in:
2017
By:
- Wassenberg, Tessa;
- Molero-Luis, Marta;
- Jeltsch, Kathrin;
- Hoffmann, Georg F.;
- Assmann, Birgit;
- Blau, Nenad;
- Garcia-Cazorla, Angeles;
- Artuch, Rafael;
- Pons, Roser;
- Pearson, Toni S.;
- Leuzzi, Vincenco;
- Mastrangelo, Mario;
- Pearl, Phillip L.;
- Wang Tso Lee;
- Kurian, Manju A.;
- Heales, Simon;
- Flint, Lisa;
- Verbeek, Marcel;
- Willemsen, Michèl;
- Opladen, Thomas
Publication type:
journal article
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2023, doi. 10.1093/brain/awae020
By:
- Abela, Lucia;
- Gianfrancesco, Lorita;
- Tagliatti, Erica;
- Rossignoli, Giada;
- Barwick, Katy;
- Zourray, Clara;
- Reid, Kimberley M;
- Budinger, Dimitri;
- Ng, Joanne;
- Counsell, John;
- Simpson, Arlo;
- Pearson, Toni S;
- Edvardson, Simon;
- Elpeleg, Orly;
- Brodsky, Frances M;
- Lignani, Gabriele;
- Barral, Serena;
- Kurian, Manju A
Publication type:
Article
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Published in:
2020
By:
- Ebrahimi-Fakhari, Darius;
- Teinert, Julian;
- Behne, Robert;
- Wimmer, Miriam;
- D'Amore, Angelica;
- Eberhardt, Kathrin;
- Brechmann, Barbara;
- Ziegler, Marvin;
- Jensen, Dana M;
- Nagabhyrava, Premsai;
- Geisel, Gregory;
- Carmody, Erin;
- Shamshad, Uzma;
- Dies, Kira A.;
- Yuskaitis, Christopher J;
- Salussolia, Catherine L;
- Ebrahimi-Fakhari, Daniel;
- Pearson, Toni S;
- Saffari, Afshin;
- Ziegler, Andreas
Publication type:
journal article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
By:
- Hübschmann, Oya Kuseyri;
- Horvath, Gabriella;
- Cortès-Saladelafont, Elisenda;
- Yıldız, Yılmaz;
- Mastrangelo, Mario;
- Pons, Roser;
- Friedman, Jennifer;
- Mercimek-Andrews, Saadet;
- Suet-Na Wong;
- Pearson, Toni S.;
- Zafeiriou, Dimitrios I.;
- Kulhánek, Jan;
- Kurian, Manju A.;
- López-Laso, Eduardo;
- Oppebøen, Mari;
- Kılavuz, Sebile;
- Wassenberg, Tessa;
- Goez, Helly;
- Scholl-Bürgi, Sabine;
- Porta, Francesco
Publication type:
Article
Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.
Published in:
Nature Communications, 2021, v. 8, p. 1, doi. 10.1038/s41467-021-24524-8
By:
- Pearson, Toni S.;
- Gupta, Nalin;
- Sebastian, Waldy San;
- Imamura-Ching, Jill;
- Viehoever, Amy;
- Grijalvo-Perez, Ana;
- Fay, Alex J.;
- Seth, Neha;
- Lundy, Shannon M.;
- Seo, Youngho;
- Pampaloni, Miguel;
- Hyland, Keith;
- Smith, Erin;
- de Oliveira Barbosa, Gardenia;
- Heathcock, Jill C.;
- Minnema, Amy;
- Lonser, Russell;
- Elder, J. Bradley;
- Leonard, Jeffrey;
- Larson, Paul
Publication type:
Article
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Published in:
Epilepsia Open, 2020, v. 5, n. 3, p. 354, doi. 10.1002/epi4.12414
By:
- Klepper, Joerg;
- Akman, Cigdem;
- Armeno, Marisa;
- Auvin, Stéphane;
- Cervenka, Mackenzie;
- Cross, Helen J.;
- De Giorgis, Valentina;
- Della Marina, Adela;
- Engelstad, Kristin;
- Heussinger, Nicole;
- Kossoff, Eric H.;
- Leen, Wilhelmina G.;
- Leiendecker, Baerbel;
- Monani, Umrao R.;
- Oguni, Hirokazu;
- Neal, Elizabeth;
- Pascual, Juan M.;
- Pearson, Toni S.;
- Pons, Roser;
- Scheffer, Ingrid E.
Publication type:
Article
Caregiver descriptions of dystonia in cerebral palsy.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 2, p. 242, doi. 10.1002/acn3.51941
By:
- Jaleel, Fayza;
- Rust, Alyssa;
- Cheung, Shirley;
- Pearson, Toni S.;
- Ueda, Keisuke;
- Robichaux‐Viehoever, Amy;
- Leger, Katie;
- Chintalapati, Keerthana;
- Guez‐Barber, Danielle;
- Shusterman, Michele;
- Aravamuthan, Bhooma
Publication type:
Article
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 12, p. 1941, doi. 10.1002/acn3.51687
By:
- Lee, Michelle M.;
- McDowell, Graeme S. V.;
- De Vivo, Darryl C.;
- Friedman, Daniel;
- Berkovic, Samuel F.;
- Spanou, Maria;
- Dinopoulos, Argirios;
- Grand, Katheryn;
- Sanchez‐Lara, Pedro A.;
- Allen‐Sharpley, Michelle;
- Warman‐Chardon, Jodi;
- Solyom, Alexander;
- Levade, Thierry;
- Schuchman, Edward H.;
- Bennett, Steffany A. L.;
- Dyment, David A.;
- Pearson, Toni S.
Publication type:
Article
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Published in:
2020
By:
- Opladen, Thomas;
- López-Laso, Eduardo;
- Cortès-Saladelafont, Elisenda;
- Pearson, Toni S.;
- Sivri, H. Serap;
- Yildiz, Yilmaz;
- Assmann, Birgit;
- Kurian, Manju A.;
- Leuzzi, Vincenzo;
- Heales, Simon;
- Pope, Simon;
- Porta, Francesco;
- García-Cazorla, Angeles;
- Honzík, Tomáš;
- Pons, Roser;
- Regal, Luc;
- Goez, Helly;
- Artuch, Rafael;
- Hoffmann, Georg F.;
- Horvath, Gabriella
Publication type:
journal article
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies.
Published in:
2020
By:
- Opladen, Thomas;
- López-Laso, Eduardo;
- Cortès-Saladelafont, Elisenda;
- Pearson, Toni S.;
- Sivri, H. Serap;
- Yildiz, Yilmaz;
- Assmann, Birgit;
- Kurian, Manju A.;
- Leuzzi, Vincenzo;
- Heales, Simon;
- Pope, Simon;
- Porta, Francesco;
- García-Cazorla, Angeles;
- Honzík, Tomáš;
- Pons, Roser;
- Regal, Luc;
- Goez, Helly;
- Artuch, Rafael;
- Hoffmann, Georg F.;
- Horvath, Gabriella
Publication type:
journal article
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Published in:
Annals of Neurology, 2022, v. 92, n. 2, p. 292, doi. 10.1002/ana.26423
By:
- Hübschmann, Oya Kuseyri;
- Juliá‐Palacios, Natalia Alexandra;
- Olivella, Mireia;
- Guder, Philipp;
- Zafeiriou, Dimitrios I.;
- Horvath, Gabriella;
- Kulhánek, Jan;
- Pearson, Toni S.;
- Kuster, Alice;
- Cortès‐Saladelafont, Elisenda;
- Ibáñez, Salvador;
- García‐Jiménez, Maria Concepción;
- Honzík, Tomáš;
- Santer, René;
- Jeltsch, Kathrin;
- Garbade, Sven F.;
- Hoffmann, Georg F.;
- Opladen, Thomas;
- García‐Cazorla, Ángeles
Publication type:
Article
Determinants of gait dystonia severity in cerebral palsy.
Published in:
Developmental Medicine & Child Neurology, 2023, v. 65, n. 7, p. 968, doi. 10.1111/dmcn.15524
By:
- Aravamuthan, Bhooma R.;
- Pearson, Toni S.;
- Ueda, Keisuke;
- Miao, Hanyang;
- Zerafati‐Jahromi, Gazelle;
- Gilbert, Laura;
- Comella, Cynthia;
- Perlmutter, Joel S.
Publication type:
Article
Dystonia in individuals with spastic cerebral palsy and isolated periventricular leukomalacia.
Published in:
Developmental Medicine & Child Neurology, 2023, v. 65, n. 1, p. 94, doi. 10.1111/dmcn.15300
By:
- Ueda, Keisuke;
- Aravamuthan, Bhooma R.;
- Pearson, Toni S.
Publication type:
Article
Gait features of dystonia in cerebral palsy.
Published in:
Developmental Medicine & Child Neurology, 2021, v. 63, n. 6, p. 748, doi. 10.1111/dmcn.14802
By:
- Aravamuthan, Bhooma R;
- Ueda, Keisuke;
- Miao, Hanyang;
- Gilbert, Laura;
- Smith, Sarah E;
- Pearson, Toni S
Publication type:
Article
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 463, doi. 10.1002/jimd.12649
By:
- Roubertie, Agathe;
- Opladen, Thomas;
- Brennenstuhl, Heiko;
- Kuseyri Hübschmann, Oya;
- Flint, Lisa;
- Willemsen, Michel A.;
- Leuzzi, Vincenzo;
- Cazorla, Angels Garcia;
- Kurian, Manju A.;
- François‐Heude, Marie Céline;
- Hwu, Paul;
- Zeev, Bruria Ben;
- Kiening, Karl;
- Roujeau, Thomas;
- Pons, Roser;
- Pearson, Toni S.
Publication type:
Article
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1121, doi. 10.1002/jimd.12247
By:
- Pearson, Toni S.;
- Gilbert, Laura;
- Opladen, Thomas;
- Garcia‐Cazorla, Angeles;
- Mastrangelo, Mario;
- Leuzzi, Vincenzo;
- Tay, Stacy K. H.;
- Sykut‐Cegielska, Jolanta;
- Pons, Roser;
- Mercimek‐Andrews, Saadet;
- Kato, Mitsuhiro;
- Lücke, Thomas;
- Oppebøen, Mari;
- Kurian, Manju A.;
- Steel, Dora;
- Manti, Filippo;
- Meeks, Kathleen D.;
- Jeltsch, Kathrin;
- Flint, Lisa
Publication type:
Article
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
By:
- Zheng, Wen-Qiang;
- Pedersen, Signe Vandal;
- Thompson, Kyle;
- Bellacchio, Emanuele;
- French, Courtney E;
- Munro, Benjamin;
- Pearson, Toni S;
- Vogt, Julie;
- Diodato, Daria;
- Diemer, Tue;
- Ernst, Anja;
- Horvath, Rita;
- Chitre, Manali;
- Ek, Jakob;
- Wibrand, Flemming;
- Grange, Dorothy K;
- Raymond, Lucy;
- Zhou, Xiao-Long;
- Taylor, Robert W;
- Ostergaard, Elsebet
Publication type:
Article
Genetic mimics of cerebral palsy.
Published in:
2019
By:
- Pearson, Toni S.;
- Pons, Roser;
- Ghaoui, Roula;
- Sue, Carolyn M.
Publication type:
journal article
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Published in:
2020
By:
- Kennedy, Adam D.;
- Pappan, Kirk L.;
- Donti, Taraka;
- Delgado, Mauricio R.;
- Shinawi, Marwan;
- Pearson, Toni S.;
- Lalani, Seema R.;
- Craigen, William J.;
- Sutton, V. Reid;
- Evans, Anne M.;
- Sun, Qin;
- Emrick, Lisa T.;
- Elsea, Sarah H.
Publication type:
Correction Notice
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Published in:
Frontiers in Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnins.2019.00394
By:
- Kennedy, Adam D.;
- Pappan, Kirk L.;
- Donti, Taraka;
- Delgado, Mauricio R.;
- Shinawi, Marwan;
- Pearson, Toni S.;
- Lalani, Seema R.;
- Craigen, William E.;
- Sutton, V. Reid;
- Evans, Anne M.;
- Sun, Qin;
- Emrick, Lisa T.;
- Elsea, Sarah H.
Publication type:
Article
Reduction in upper-extremity tone after lumbar selective dorsal rhizotomy in children with spastic cerebral palsy.
Published in:
Journal of Neurosurgery, 2013, p. 588, doi. 10.3171/2013.9.peds12591
By:
- GIGANTE, PAUL;
- MCDOWELL, MICHAEL M.;
- BRUCE, SAMUEL S.;
- CHIRELSTEIN, GENEVIEVE;
- CHIRIBOGA, CLAUDIA A.;
- DUTKOWSKY, JOSEPH;
- FONTANA, ELIZABETH;
- HYMAN, JOSHUA;
- KIM, HEAKYUNG;
- MORGAN, DEAN;
- PEARSON, TONI S.;
- ROYE, BENJAMIN D.;
- ROYE JR., DAVID P.;
- RYAN, PATRICIA;
- VITALE, MICHAEL;
- ANDERSON, RICHARD C. E.
Publication type:
Article
Delayed onset of progressive chorea after acute basal ganglia injury.
Published in:
Movement Disorders, 2013, v. 28, n. 5, p. 585, doi. 10.1002/mds.25436
By:
- Virmani, Tuhin;
- Greene, Paul E.;
- Pearson, Toni S.
Publication type:
Article
85-LB: A Phase 1b/2 Clinical Trial of Dantrolene Sodium in Patients with Wolfram Syndrome.
Published in:
Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-85-LB
By:
- ABREU, DAMIEN;
- PEARSON, TONI S.;
- BUCELLI, ROBERT C.;
- SIMPSON, ASHLEY;
- BROWN, CRIS M.;
- KRIES, KELLY;
- GU, HONGJIE;
- STONE, STEPHEN I.;
- TYCHSEN, LAWRENCE;
- STAVERN, GREGORY VAN;
- WHITE, NEIL H.;
- MARSHALL, BESS A.;
- HERSHEY, TAMARA;
- URANO, FUMIHIKO
Publication type:
Article

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