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The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases.
Published in:
Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 149, doi. 10.1002/mdc3.12573
By:
- Davis, Peter E.;
- Anselm, Irina;
- Ebrahimi‐Fakhari, Darius;
- Hildebrandt, Clara;
- Rodan, Lance H.;
- Bodamer, Olaf
Publication type:
Article
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.
Published in:
EMBO Molecular Medicine, 2021, v. 13, n. 9, p. 1, doi. 10.15252/emmm.202114712
By:
- Hwu, Paul Wuh‐Liang;
- Kiening, Karl;
- Anselm, Irina;
- Compton, David R;
- Nakajima, Takeshi;
- Opladen, Thomas;
- Pearl, Phillip L;
- Roubertie, Agathe;
- Roujeau, Thomas;
- Muramatsu, Shin‐ichi
Publication type:
Article
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
Published in:
Journal of Child Neurology, 2017, v. 32, n. 1, p. 127, doi. 10.1177/0883073816672998
By:
- Rodan, Lance H.;
- Berry, Gerard T.;
- El Achkar, Christelle Moufawad;
- Poduri, Annapurna;
- Anselm, Irina;
- Prabhu, Sanjay P.;
- Yang, Edward
Publication type:
Article
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation.
Published in:
Journal of Child Neurology, 2016, v. 31, n. 8, p. 1027, doi. 10.1177/0883073816635749
By:
- Dy, Marisela E.;
- Chang, Florence C. F.;
- Jesus, Sol De;
- Anselm, Irina;
- Mahant, Neil;
- Zeilman, Pamela;
- Rodan, Lance H.;
- Foote, Kelly D.;
- Tan, Wen-Hann;
- Eskandar, Emad;
- Sharma, Nutan;
- Okun, Michael S.;
- Fung, Victor S. C.;
- Waugh, Jeff L.
Publication type:
Article
Adrenal Insufficiency in Mitochondrial Disease.
Published in:
2016
By:
- Calderwood, Laurel;
- Holm, Ingrid A.;
- Teot, Lisa A.;
- Anselm, Irina
Publication type:
Case Study
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2768, doi. 10.1002/ajmg.a.40628
By:
- Gartner, Valerie;
- Markello, Thomas C.;
- Macnamara, Ellen;
- De Biase, Andrea;
- Thurm, Audrey;
- Joseph, Lisa;
- Beggs, Alan;
- Schmahmann, Jeremy D.;
- Berry, Gerard T.;
- Anselm, Irina;
- Boslet, Emma;
- Tifft, Cynthia J.;
- Gahl, William A.;
- Lee, Paul R.
Publication type:
Article
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2956, doi. 10.1002/ajmg.a.34297
By:
- Bird, Lynne M.;
- Tan, Wen-Hann;
- Bacino, Carlos A.;
- Peters, Sarika U.;
- Skinner, Steven A.;
- Anselm, Irina;
- Barbieri-Welge, Rene;
- Bauer-Carlin, Astrid;
- Gentile, Jennifer K.;
- Glaze, Daniel G.;
- Horowitz, Lucia T.;
- Mohan, K. Naga;
- Nespeca, Mark P.;
- Sahoo, Trilochan;
- Sarco, Dean;
- Waisbren, Susan E.;
- Beaudet, Arthur L.
Publication type:
Article
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
Published in:
2019
By:
- Han, Julia;
- Bichell, Terry Jo;
- Golden, Stephanie;
- Anselm, Irina;
- Waisbren, Susan;
- Bacino, Carlos A.;
- Peters, Sarika U.;
- Bird, Lynne M.;
- Kimonis, Virginia
Publication type:
journal article
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 391, doi. 10.1002/jmd2.12303
By:
- Andzelm, Milena M.;
- Balasubramaniam, Shanti;
- Yang, Edward;
- Compton, Alison G.;
- Millington, Kate;
- Zhu, Jia;
- Anselm, Irina;
- Rodan, Lance H.;
- Thorburn, David R.;
- Christodoulou, John;
- Srivastava, Siddharth
Publication type:
Article
Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 63, doi. 10.1002/jmd2.12018
By:
- Demirbas, Didem;
- Harris, David J.;
- Arn, Pamela H.;
- Huang, Xiaoping;
- Waisbren, Susan E.;
- Anselm, Irina;
- Lerner‐Ellis, Jordan P.;
- Wong, Lee‐Jun;
- Levy, Harvey L.;
- Berry, Gerard T.
Publication type:
Article
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Published in:
2020
By:
- Farmer, Cristan A.;
- Kaat, Aaron J.;
- Thurm, Audrey;
- Anselm, Irina;
- Akshoomoff, Natacha;
- Bennett, Amanda;
- Berry, Leandra;
- Bruchey, Aleksandra;
- Barshop, Bruce A.;
- Berry-Kravis, Elizabeth;
- Bianconi, Simona;
- Cecil, Kim M.;
- Davis, Robert J.;
- Ficicioglu, Can;
- Porter, Forbes D.;
- Wainer, Allison;
- Goin-Kochel, Robin P.;
- Leonczyk, Caroline;
- Guthrie, Whitney;
- Koeberl, Dwight
Publication type:
journal article
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 3, p. 406, doi. 10.1111/epi.14653
By:
- Kelly, McKenna;
- Park, Meredith;
- Mihalek, Ivana;
- Rochtus, Anne;
- Gramm, Marie;
- Pérez‐Palma, Eduardo;
- Axeen, Erika Takle;
- Hung, Christina Y.;
- Olson, Heather;
- Swanson, Lindsay;
- Anselm, Irina;
- Briere, Lauren C.;
- High, Frances A.;
- Sweetser, David A.;
- Kayani, Saima;
- Snyder, Molly;
- Calvert, Sophie;
- Scheffer, Ingrid E.;
- Yang, Edward;
- Waugh, Jeff L.
Publication type:
Article
First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
Published in:
Clinical Genetics, 2020, v. 97, n. 5, p. 793, doi. 10.1111/cge.13708
By:
- Bai, Renkui;
- Haude, Katrina;
- Yang, Edward;
- Goldstein, Amy;
- Anselm, Irina
Publication type:
Article
Angelman syndrome: Mutations influence features in early childhood.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 81, doi. 10.1002/ajmg.a.33775
By:
- Tan, Wen-Hann;
- Bacino, Carlos A.;
- Skinner, Steven A.;
- Anselm, Irina;
- Barbieri-Welge, Rene;
- Bauer-Carlin, Astrid;
- Beaudet, Arthur L.;
- Bichell, Terry Jo;
- Gentile, Jennifer K.;
- Glaze, Daniel G.;
- Horowitz, Lucia T.;
- Kothare, Sanjeev V.;
- Lee, Hye-Seung;
- Nespeca, Mark P.;
- Peters, Sarika U.;
- Sahoo, Trilochan;
- Sarco, Dean;
- Waisbren, Susan E.;
- Bird, Lynne M.
Publication type:
Article
Brief Communications.
Published in:
Journal of Child Neurology, 2001, v. 16, n. 3, p. 212
By:
- Rosman, N. Paul;
- Anselm, Irina;
- Bhadelia, Rafeeque A.;
- Shinawi, Marwan;
- Shahar, Eli;
- Greco, Filippo;
- Finocchiaro, Maria;
- Pavone, Piero;
- Trifiletti, Rosario R;
- Parano, Enrico;
- Wilmshurst, Jo M.;
- Howman-Giles, Robert;
- Antony, Jayne
Publication type:
Article

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