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Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Published in:
Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
By:
- Komulainen‐Ebrahim, Jonna;
- Kangas, Salla M.;
- López‐Martín, Estrella;
- Feyma, Timothy;
- Scaglia, Fernando;
- Martínez‐Delgado, Beatriz;
- Kuismin, Outi;
- Suo‐Palosaari, Maria;
- Carr, Lucinda;
- Hinttala, Reetta;
- Kurian, Manju A.;
- Uusimaa, Johanna
Publication type:
Article
Preliminary Evidence That Resting State Heart Rate Variability Predicts Reactivity to Tactile Stimuli in Rett Syndrome.
Published in:
Journal of Child Neurology, 2020, v. 35, n. 1, p. 42, doi. 10.1177/0883073819875915
By:
- Merbler, Alyssa M.;
- Byiers, Breanne J.;
- Hoch, John;
- Dimian, Adele C.;
- Barney, Chantel C.;
- Feyma, Timothy J.;
- Beisang, Arthur A.;
- Bartolomucci, Alessandro;
- Symons, Frank J.
Publication type:
Article
Seizures and Pain Uncertainty Associated With Parenting Stress and Rett Syndrome.
Published in:
Journal of Child Neurology, 2014, v. 29, n. 4, p. 526, doi. 10.1177/0883073812470736
By:
- Byiers, Breanne J.;
- Tervo, Raymond C.;
- Feyma, Timothy J.;
- Symons, Frank J.
Publication type:
Article
Transcranial Direct Current Stimulation (tDCS) Paired with Occupation-Centered Bimanual Training in Children with Unilateral Cerebral Palsy: A Preliminary Study.
Published in:
Neural Plasticity, 2018, p. 1, doi. 10.1155/2018/9610812
By:
- Rich, Tonya L.;
- Nemanich, Samuel;
- Chen, Mo;
- Friel, Kathleen;
- Feyma, Timothy;
- Krach, Linda;
- Nawshin, Tanjila;
- Meekins, Gregg;
- Gillick, Bernadette T.
Publication type:
Article
Analysis of X‐inactivation status in a Rett syndrome natural history study cohort.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1917
By:
- Fang, Xiaolan;
- Butler, Kameryn M.;
- Abidi, Fatima;
- Gass, Jennifer;
- Beisang, Arthur;
- Feyma, Timothy;
- Ryther, Robin C.;
- Standridge, Shannon;
- Heydemann, Peter;
- Jones, Mary;
- Haas, Richard;
- Lieberman, David N;
- Marsh, Eric D.;
- Benke, Tim A.;
- Skinner, Steve;
- Neul, Jeffrey L.;
- Percy, Alan K.;
- Friez, Michael J.;
- Caylor, Raymond C.
Publication type:
Article
The array of clinical phenotypes of males with mutations in Methyl‐CpG binding protein 2.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 1, p. 55, doi. 10.1002/ajmg.b.32707
By:
- Neul, Jeffrey L.;
- Benke, Timothy A.;
- Marsh, Eric D.;
- Skinner, Steven A.;
- Merritt, Jonathan;
- Lieberman, David N.;
- Standridge, Shannon;
- Feyma, Timothy;
- Heydemann, Peter;
- Peters, Sarika;
- Ryther, Robin;
- Jones, Mary;
- Suter, Bernhard;
- Kaufmann, Walter E.;
- Glaze, Daniel G.;
- Percy, Alan K.
Publication type:
Article
Phenotypic features in MECP2 duplication syndrome: Effects of age.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 362, doi. 10.1002/ajmg.a.61956
By:
- Peters, Sarika U.;
- Fu, Cary;
- Marsh, Eric D.;
- Benke, Tim A.;
- Suter, Bernard;
- Skinner, Steve A.;
- Lieberman, David N.;
- Standridge, Shannon;
- Jones, Mary;
- Beisang, Arthur;
- Feyma, Timothy;
- Heydeman, Peter;
- Ryther, Robin;
- Glaze, Daniel G.;
- Percy, Alan K.;
- Neul, Jeffrey L.
Publication type:
Article
Correction to: Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation.
Published in:
2020
By:
- Wright, Jason N.;
- Feyma, Timothy J.;
- Ishak, Gisele E.;
- Abeshaus, Sergey;
- Metz, James B.;
- Brown, Emily C. B.;
- Friedman, Seth D.;
- Browd, Samuel R.;
- Feldman, Kenneth W.
Publication type:
Correction Notice
Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation.
Published in:
2019
By:
- Wright, Jason N.;
- Feyma, Timothy J.;
- Ishak, Gisele E.;
- Abeshaus, Sergey;
- Metz, James B.;
- Brown, Emily C. B.;
- Friedman, Seth D.;
- Browd, Samuel R.;
- Feldman, Kenneth W.
Publication type:
journal article
Microvascular decompression with partial occipital condylectomy in a case of pediatric spasmodic torticollis.
Published in:
Child's Nervous System, 2019, v. 35, n. 7, p. 1263, doi. 10.1007/s00381-019-04065-8
By:
- Graupman, Patrick;
- Feyma, Timothy;
- Sorenson, Thomas;
- Nussbaum, Eric S.
Publication type:
Article
Less-Affected Hand Function in Children With Hemiparetic Unilateral Cerebral Palsy: A Comparison Study With Typically Developing Peers.
Published in:
Neurorehabilitation & Neural Repair, 2017, v. 31, n. 10/11, p. 965, doi. 10.1177/1545968317739997
By:
- Rich, Tonya L.;
- Menk, Jeremiah S.;
- Rudser, Kyle D.;
- Feyma, Timothy;
- Gillick, Bernadette T.
Publication type:
Article
Cover Image.
Published in:
Brain & Behavior, 2019, v. 9, n. 5, p. N.PAG, doi. 10.1002/brb3.1314
By:
- Symons, Frank J.;
- Barney, Chantel C.;
- Byiers, Breanne J.;
- McAdams, Brian D.;
- Foster, Shawn X. Y. L.;
- Feyma, Timothy J.;
- Wendelschafer‐Crabb, Gwen;
- Kennedy, William R.
Publication type:
Article
A clinical case–control comparison of epidermal innervation density in Rett syndrome.
Published in:
Brain & Behavior, 2019, v. 9, n. 5, p. N.PAG, doi. 10.1002/brb3.1285
By:
- Symons, Frank J.;
- Barney, Chantel C.;
- Byiers, Breanne J.;
- McAdams, Brian D.;
- Foster, Shawn X. Y. L.;
- Feyma, Timothy J.;
- Wendelschafer‐Crabb, Gwen;
- Kennedy, William R.
Publication type:
Article
Child and Caregiver Perspectives of a Combined Brain Stimulation and Constraint-Induced Movement Therapy Trial.
Published in:
2017
By:
- Rich, Tonya;
- Chen, Chao-Ying;
- Feyma, Timothy;
- Meekins, Gregg;
- Ward, Marcie;
- Krach, Linda E.;
- Gillick, Bernadette
Publication type:
Abstract
Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma.
Published in:
Muscle & Nerve, 2008, v. 38, n. 1, p. 916, doi. 10.1002/mus.21046
By:
- Feyma, Timothy;
- Carter, Gregory T.;
- Weiss, Michael D.
Publication type:
Article
A case-controlled comparison of postoperative analgesic dosing between girls with Rett syndrome and girls with and without developmental disability undergoing spinal fusion surgery.
Published in:
Pediatric Anesthesia, 2017, v. 27, n. 3, p. 290, doi. 10.1111/pan.13066
By:
- Barney, Chantel C.;
- Merbler, Alyssa M.;
- Quest, Kelsey;
- Byiers, Breanne J.;
- Wilcox, George L.;
- Schwantes, Scott;
- Roiko, Samuel A.;
- Feyma, Timothy;
- Beisang, Arthur;
- Symons, Frank J.;
- Veyckemans, Francis
Publication type:
Article
Pain Experience and Expression in Rett Syndrome: Subjective and Objective Measurement Approaches.
Published in:
Journal of Developmental & Physical Disabilities, 2015, v. 27, n. 4, p. 417, doi. 10.1007/s10882-015-9427-3
By:
- Barney, Chantel;
- Feyma, Timothy;
- Beisang, Arthur;
- Symons, Frank
Publication type:
Article
The feasibility of using actigraphy to characterize sleep in Rett syndrome.
Published in:
Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s11689-018-9227-z
By:
- Merbler, Alyssa M.;
- Byiers, Breanne J.;
- Garcia, John J.;
- Feyma, Timothy J.;
- Symons, Frank J.
Publication type:
Article
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02891-3
By:
- Schoch, Kelly;
- McConkie-Rosell, Allyn;
- Walley, Nicole;
- Bhambhani, Vikas;
- Feyma, Timothy;
- Pizoli, Carolyn E.;
- Smith, Edward C.;
- Tan, Queenie K.-G.;
- Shashi, Vandana
Publication type:
Article
Associations Among Diurnal Salivary Cortisol Patterns, Medication Use, and Behavioral Phenotype Features in a Community Sample of Rett Syndrome.
Published in:
2020
By:
- Byiers, Breanne J.;
- Payen, Ameante;
- Feyma, Timothy;
- Panoskaltsis-Mortari, Angela;
- Ehrhardt, Michael J.;
- Symons, Frank J.
Publication type:
journal article
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Published in:
Clinical Genetics, 2020, v. 97, n. 2, p. 305, doi. 10.1111/cge.13657
By:
- Powis, Zöe;
- Towne, Meghan C.;
- Hagman, Kelly D.F.;
- Blanco, Kirsten;
- Palmaer, Erika;
- Castro, Andrew;
- Sajan, Samin A.;
- Radtke, Kelly;
- Feyma, Timothy J.;
- Juliette, Kali;
- Tang, Sha;
- Sidiropoulos, Christos
Publication type:
Article
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 575, doi. 10.1111/cge.13521
By:
- Peters, Sarika U.;
- Fu, Cary;
- Suter, Bernhard;
- Marsh, Eric;
- Benke, Timothy A.;
- Skinner, Steve A.;
- Lieberman, David N.;
- Standridge, Shannon;
- Jones, Mary;
- Beisang, Arthur;
- Feyma, Timothy;
- Heydeman, Peter;
- Ryther, Robin;
- Kaufmann, Walter E.;
- Glaze, Daniel G.;
- Neul, Jeffrey L.;
- Percy, Alan K.
Publication type:
Article
Synergistic effect of combined transcranial direct current stimulation/constraint-induced movement therapy in children and young adults with hemiparesis: study protocol.
Published in:
2015
By:
- Gillick, Bernadette;
- Menk, Jeremiah;
- Mueller, Bryon;
- Meekins, Gregg;
- Krach, Linda E.;
- Feyma, Timothy;
- Rudser, Kyle
Publication type:
journal article
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.
Published in:
Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09502-z
By:
- Neul, Jeffrey L.;
- Benke, Timothy A.;
- Marsh, Eric D.;
- Suter, Bernhard;
- Silveira, Lori;
- Fu, Cary;
- Peters, Sarika U.;
- Percy, Alan K.;
- Skinner, Steven A.;
- Heydemann, Peter T.;
- Ryther, Robin C.;
- Haas, Richard H.;
- Lieberman, David N.;
- Beisang, Art A.;
- Feyma, Timothy;
- Standridge, Shannon M.
Publication type:
Article
GABRA1‐Related Disorders: From Genetic to Functional Pathways.
Published in:
Annals of Neurology, 2024, v. 95, n. 1, p. 27, doi. 10.1002/ana.26774
By:
- Musto, Elisa;
- Liao, Vivian W. Y.;
- Johannesen, Katrine M.;
- Fenger, Christina D.;
- Lederer, Damien;
- Kothur, Kavitha;
- Fisk, Katrina;
- Bennetts, Bruce;
- Vrielynck, Pascal;
- Delaby, Delphine;
- Ceulemans, Berten;
- Weckhuysen, Sarah;
- Sparber, Peter;
- Bouman, Arjan;
- Ardern‐Holmes, Simone;
- Troedson, Christopher;
- Battaglia, Domenica I.;
- Goel, Himanshu;
- Feyma, Timothy;
- Bakhtiari, Somayeh
Publication type:
Article
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1263, doi. 10.1002/humu.24015
By:
- Carvill, Gemma L.;
- Helbig, Katherine L.;
- Myers, Candace T.;
- Scala, Marcello;
- Huether, Robert;
- Lewis, Sara;
- Kruer, Tyler N.;
- Guida, Brandon S.;
- Bakhtiari, Somayeh;
- Sebe, Joy;
- Tang, Sha;
- Stickney, Heather;
- Oktay, Sehribani Ulusoy;
- Bhandiwad, Ashwin A.;
- Ramsey, Keri;
- Narayanan, Vinodh;
- Feyma, Timothy;
- Rohena, Luis O.;
- Accogli, Andrea;
- Severino, Mariasavina
Publication type:
Article
Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.
Published in:
Genes, 2024, v. 15, n. 8, p. 1107, doi. 10.3390/genes15081107
By:
- Neul, Jeffrey L.;
- Benke, Timothy A.;
- Marsh, Eric D.;
- Suter, Bernhard;
- Fu, Cary;
- Ryther, Robin C.;
- Skinner, Steven A.;
- Lieberman, David N.;
- Feyma, Timothy;
- Beisang, Arthur;
- Heydemann, Peter;
- Peters, Sarika U.;
- Ananth, Amitha;
- Percy, Alan K.
Publication type:
Article
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.
Published in:
2016
By:
- Feyma, Timothy;
- Ramsey, Keri;
- Huentelman, Matthew J.;
- Craig, David W.;
- Padilla ‐ Lopez, Sergio;
- Narayanan, Vinodh;
- Kruer, Michael C.;
- C4RCD Research Group;
- Padilla-Lopez, Sergio
Publication type:
Case Study

Found: 28