Works matching DE "DYSTONIA musculorum deformans"

Results: 61

Torsion of undescended testis.

Published in:

Indian Journal of Surgery, 2006, v. 68, n. 2, p. 106

By:

Ahmad, S. N.;
Chowdri, N. A.;
Parray, F. Q.;
Wani, R. A.

Publication type:

Article

脑深部电刺激术治疗扭转痉挛及术后神经调控.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 10, p. 800, doi. 10.3969/j.issn.1672-6731.2015.10.007

By:

王景;
汪鑫;
罗甜;
李楠;
王学廉;
高国栋

Publication type:

Article

Dystonia.

Published in:

European Neurology, 2005, v. 53, n. 3, p. 151, doi. 10.1159/000085834

By:

Pearce, J. M. S.

Publication type:

Article

Benign paroksismal tortikollis.

Published in:

Türk Pediatri Arşivi, 2009, v. 44, n. 1, p. 35

By:

Demirpençe, Savaş;
Yiş, Uluç;
Kurul, Semra Hız

Publication type:

Article

PACIENŢII CU RISC DIN CAUZA FONDULUI ETNIC DE BAZĂ.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2009, v. 58, n. 4, p. 331

By:

Popescu, Valeriu

Publication type:

Article

Mutations in GNAL cause primary torsion dystonia.

Published in:

Nature Genetics, 2013, v. 45, n. 1, p. 88, doi. 10.1038/ng.2496

By:

Fuchs, Tania;
Saunders-Pullman, Rachel;
Masuho, Ikuo;
Luciano, Marta San;
Raymond, Deborah;
Factor, Stewart;
Lang, Anthony E;
Liang, Tsao-Wei;
Trosch, Richard M;
White, Sierra;
Ainehsazan, Edmond;
Hervé, Denis;
Sharma, Nutan;
Ehrlich, Michelle E;
Martemyanov, Kirill A;
Bressman, Susan B;
Ozelius, Laurie J

Publication type:

Article

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

Published in:

Nature Genetics, 2009, v. 41, n. 3, p. 286, doi. 10.1038/ng.304

By:

Fuchs, Tania;
Gavarini, Sophie;
Saunders-Pullman, Rachel;
Raymond, Deborah;
Ehrlich, Michelle E.;
Bressman, Susan B.;
Ozelius, Laurie J.

Publication type:

Article

DYT1 mutation in primary torsion dystonia in a Serbian population.

Published in:

Journal of Neurology, 2001, v. 248, n. 11, p. 940, doi. 10.1007/s004150170045

By:

Major, Tamara;
Svetel, Marina;
Romac, Stanka;
Kostić, Vladimir S.

Publication type:

Article

Clinical characteristics of the geste antagoniste in cervical dystonia.

Published in:

Journal of Neurology, 2001, v. 248, n. 6, p. 478

By:

Müller, J.;
Wissel, J.;
Masuhr, F.;
Ebersbach, G.;
Wenning, G. K.;
Poewe, W.

Publication type:

Article

Minimal Change in the Cytoplasmic Calcium Dynamics in Striatal GABAergic Neurons of a DYT1 Dystonia Knock-In Mouse Model.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080793

By:

Iwabuchi, Sadahiro;
Koh, Jin-Young;
Wang, Kai;
Ho, K. W. David;
Harata, N. Charles

Publication type:

Article

Pre-Synaptic Release Deficits in a DYT1 Dystonia Mouse Model.

Published in:

PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072491

By:

Yokoi, Fumiaki;
Cheetham, Chad C.;
Campbell, Susan L.;
Sweatt, J. David;
Li, Yuqing

Publication type:

Article

Alteration of Striatal Dopaminergic Neurotransmission in a Mouse Model of DYT11 Myoclonus-Dystonia.

Published in:

PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033669

By:

Lin Zhang;
Fumiaki Yokoi;
Parsons, Dee S.;
Standaert, David G.;
Yuqing Li

Publication type:

Article

Motor Unit Abnormalities in Dystonia musculorum Mice.

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021093

By:

Repentigny, Yves De;
Ferrier, Andrew;
Ryan, Scott D.;
Sato, Tadasu;
Kothary, Rashmi

Publication type:

Article

Pirminės torsioninės distonijos gydymas gilumine smegenų stimuliacija: pirmasis atvejis Lietuvoje.

Published in:

Neurologijos Seminarai, 2016, v. 20, n. 2, p. 98

By:

Vaièiene-Magistris, N.;
Karandienė, J.;
Gleiznienė, R.;
Radžiūnas, A.

Publication type:

Article

IQ level in children with epilepsy: familial, genetic, and seizure-related factors.

Published in:

Developmental Medicine & Child Neurology, 2013, v. 55, n. 3, p. 204, doi. 10.1111/dmcn.12053

By:

Prentkowski, Erica D;
Dunn, David W

Publication type:

Article

Cyclotorsional eye movements during a simulated PRK procedure.

Published in:

Eye (0950-222X), 2006, v. 20, n. 7, p. 764, doi. 10.1038/sj.eye.6701994

By:

Fea, A. M.;
Sciandra, L.;
Annetta, F.;
Musso, M.;
Dal Vecchio, M.;
Grignolo, F. M.

Publication type:

Article

Omental torsion in a guinea pig (Cavia porcellus).

Published in:: Canadian Veterinary Journal / Revue Vétérinaire Canadienne, 2008, v. 49, n. 9, p. 898
Publication type:: Article

Widespread Nevus Spilus Associated with Torsion Dystonia: A Case Report.

Published in:

Pediatric Dermatology, 2010, v. 27, n. 6, p. 654, doi. 10.1111/j.1525-1470.2010.01325.x

By:

MARTÍ, NURIA;
JORDÁ, ESPERANZA;
MARTÍNEZ, ESPERANZA;
GÁMEZ, LUCÍA;
RAMÓN, M<sup>a</sup> DOLORES

Publication type:

Article

Role of DYT1 gene in early-onset primary torsion dystonia.

Published in:

Neural Regeneration Research, 2010, v. 5, n. 18, p. 1429, doi. 10.3969/j.issn.1673-5374.2010.18.012

By:

Xiaohui Hu;
Xueping Chen;
Rui Huang;
Huifang Shang

Publication type:

Article

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Published in:

2017

By:

Kariminejad, Ariana;
Dahl-Halvarsson, Martin;
Ravenscroft, Gianina;
Afroozan, Fariba;
Keshavarz, Elham;
Goullée, Hayley;
Davis, Mark R.;
Zonooz, Mehrshid Faraji;
Najmabadi, Hossein;
Laing, Nigel G.;
Tajsharghi, Homa;
Faraji Zonooz, Mehrshid

Publication type:

journal article

The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia.

Published in:

2015

By:

Sako, Wataru;
Fujita, Koji;
Vo, An;
Rucker, Janet C.;
Rizzo, John-Ross;
Niethammer, Martin;
Carbon, Maren;
Bressman, Susan B.;
Uluğ, Aziz M.;
Eidelberg, David

Publication type:

journal article

Temporal Discrimination Threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 9, p. 2327, doi. 10.1093/brain/awp156

By:

Bradley, D.;
Whelan, R.;
Walsh, R.;
Reilly, R. B.;
Hutchinson, S.;
Molloy, F.;
Hutchinson, M.

Publication type:

Article

Omental torsion in adults: A clinical twister.

Published in:

Surgical Practice, 2007, v. 11, n. 2, p. 66, doi. 10.1111/j.1744-1633.2007.00340.x

By:

Sammour, Khalil Y.;
Abburu, Rao S.;
Sammour, Tarik

Publication type:

Article

Impairment of movement initiation and execution but not preparation in idiopathic dystonia.

Published in:

Experimental Brain Research, 2001, v. 140, n. 4, p. 460, doi. 10.1007/s002210100847

By:

Jahanshahi, Marjan;
Rowe, John;
Fuller, Rebecca

Publication type:

Article

Torsional vestibulo-ocular reflex during whole-body oscillation in the upright and the supine position.: I. Responses in healthy human subjects.

Published in:

Experimental Brain Research, 2000, v. 134, n. 2, p. 212, doi. 10.1007/s002210000436

By:

Schmid-Priscoveanu, A.;
Straumann, D.;
Kori, A. A.

Publication type:

Article

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1133, doi. 10.1093/hmg/7.7.1133

By:

Klein, Christine;
Brin, Mitchell F.;
de Leon, Deborah;
Limborska, Svetlana A.;
Ivanova‐Smolenskaya, Irina A.;
Bressman, Susan B.;
Friedman, Andrzej;
Markova, Elena D.;
Risch, Neil J.;
Breakefield, Xandra O.;
Ozelius, Laurie J.

Publication type:

Article

Idiopathic Torsion Dystonia Associated with Lesions of the Basal Ganglia.

Published in:

Clinical Pediatrics, 1984, v. 23, n. 4, p. 232, doi. 10.1177/000992288402300410

By:

PeBenito, Rhandy;
Ferretti, Chantal;
Chaudary, Riffat R.;
Woodrow, Paul K.

Publication type:

Article

Reduced Proliferation of Oligodendrocyte Progenitor Cells in the Postnatal Brain of Dystonia Musculorum Mice.

Published in:

Neurochemical Research, 2018, v. 43, n. 1, p. 92, doi. 10.1007/s11064-017-2342-5

By:

Hossain, M. Ibrahim;
Horie, Masao;
Takebayashi, Hirohide

Publication type:

Article

Early onset torsion dystonia (Oppenheim's dystonia).

Published in:

Orphanet Journal of Rare Diseases, 2006, v. 1, p. 48, doi. 10.1186/1750-1172-1-48

By:

Kamm, Christoph

Publication type:

Article

Dystonia mięśni brzucha u pacjentki cierpiącej na schizofrenię: opis przypadku.

Published in:

Psychiatria Polska, 2009, v. 43, n. 6, p. 751

By:

Wichowicz, Hubert M.;
Jakuszkowiak-Wojten, Katarzyna;
Sławek, Jarosław;
Sołtan, Witold;
Cubała, Wiesław J.;
Landowski, Jerzy

Publication type:

Article

Pathogenesis of two axonopathies does not require axonal neurofilaments.

Published in:

Nature, 1998, v. 391, n. 6667, p. 584, doi. 10.1038/35378

By:

Eyer, J.;
Cleveland, D.W.;
Wong, P.C.;
Peterson, A.C.

Publication type:

Article

Rest tremor in idiopathic adult-onset dystonia.

Published in:

European Journal of Neurology, 2016, v. 23, n. 5, p. 935, doi. 10.1111/ene.12966

By:

Gigante, A. F.;
Berardelli, A.;
Defazio, G.

Publication type:

Article

Impaired fast axonal transport in neurons of the sciatic nerves from dystonia musculorum mice.

Published in:

Journal of Neurochemistry, 2003, v. 86, n. 3, p. 564, doi. 10.1046/j.1471-4159.2003.01861.x

By:

De Repentigny, Yves;
Deschênes-Furry, Julie;
Jasmin, Bernard J.;
Kothary, Rashmi

Publication type:

Article

TorsinA restoration in a mouse model identifies a critical therapeutic window for DYT1 dystonia.

Published in:

2021

By:

Li, Jay;
Levin, Daniel S.;
Kim, Audrey J.;
Pappas, Samuel S.;
Dauer, William T.

Publication type:

journal article

Antidepressants and extrapyramidal symptoms.

Published in:

Brown University Psychopharmacology Update, 2018, v. 29, n. 12, p. 2, doi. 10.1002/pu.30376

By:

Lam, Y. W. Francis

Publication type:

Article

Uterine position in adnexal torsion: specificity and sensitivity of ipsilateral deviation of the uterus.

Published in:

Pediatric Radiology, 2009, v. 39, n. 4, p. 354, doi. 10.1007/s00247-009-1172-2

By:

Harmon, Jenna C.;
Binkovitz, Larry A.;
Stephens, Julie

Publication type:

Article

Risperidone as an alternative treatment for paroxysmal kinesigenic dyskinesia.

Published in:

2003

By:

Karakurum, B.;
Karatas, M.;
Yildirim, T.

Publication type:

Case Study

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset.

Published in:

2001

By:

Valente, E. M.;
Bentivoglio, A. R.;
Cassetta, E.;
Dixon, P. H.;
Davis, M. B.;
Ferraris, A.;
Ialongo, T.;
Frontali, M.;
Wood, N. W.;
Albanese, A.

Publication type:

journal article

Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivo.

Published in:

Journal of Neurochemistry, 2010, v. 113, n. 1, p. 228, doi. 10.1111/j.1471-4159.2010.06590.x

By:

Hewett, Jeff;
Johanson, Peter;
Sharma, Nutan;
Standaert, David;
Balcioglu, Aygul

Publication type:

Article

Status Dystonicus: A Rare Complication of Dystonia.

Published in:

Indian Pediatrics, 2010, v. 47, n. 10, p. 883, doi. 10.1007/s13312-010-0138-7

By:

MISHRA, DEVENDRA;
SINGHAL, SWATI;
JUNEJA, MONICA

Publication type:

Article

Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression.

Published in:

Mammalian Genome, 2005, v. 16, n. 12, p. 909, doi. 10.1007/s00335-005-0073-4

By:

Pool, Madeline;
Boudreau Larivière, Céline;
Bernier, Gilbert;
Young, Kevin;
Kothary, Rashmi

Publication type:

Article

Focal dystonia, with special reference to writer's cramp.

Published in:

International Journal of Clinical Practice, 2005, v. 59, n. 9, p. 1088, doi. 10.1111/j.1742-1241.2005.00603.x

By:

Gordon, N. S.

Publication type:

Article

F-Wave in the Upper Extremities of Patients with Primary Torsion Dystonia.

Published in:

Neurophysiology, 2015, v. 47, n. 3, p. 244, doi. 10.1007/s11062-015-9528-8

By:

Semerdjieva, N.;
Atanasova, D.;
Hranov, G.;
Milanov, I.

Publication type:

Article

Changing practice in anterior urethroplasty.

Published in:

BJU International, 1999, v. 83, n. 6

By:

Greenwell;
Venn;
Mundy

Publication type:

Article

Pelvic Ultrasound in Diagnosing and Evaluating the Efficacy of Gonadotropin-Releasing Hormone Agonist Therapy in Girls With Idiopathic Central Precocious Puberty.

Published in:

Frontiers in Pharmacology, 2019, p. N.PAG, doi. 10.3389/fphar.2019.00104

By:

Yu, Hong-kui;
Liu, Xiao;
Chen, Jia-kun;
Wang, Shan;
Quan, Xian-yue

Publication type:

Article

Facial movement disorders: a progress report.

Published in:

Quintessence International, 1979, v. 10, n. 2, p. 109

By:

Sutcher, Howard;
Kutz, Robert A.

Publication type:

Article

Adult-onset inflammatory myopathy: North Canterbury experience 1989–2001.

Published in:

Internal Medicine Journal, 2005, v. 35, n. 3, p. 170, doi. 10.1111/j.1445-5994.2004.00764.x

By:

Lynn, S. J.;
Sawyers, S. M.;
Moller, P. W.;
O'Donnell, J. L.;
Chapman, P. T.

Publication type:

Article

Omental whirl: torsion of the greater omentum.

Published in:

2004

By:

Itinteang, Tinte;
Van Gelderen, W. Fred;
Irwin, Robin J.

Publication type:

Letter

Muscle stem cells can act as antigen-presenting cells: implication for gene therapy.

Published in:

Gene Therapy, 2004, v. 11, n. 17, p. 1321, doi. 10.1038/sj.gt.3302293

By:

Cao, B.;
Bruder, J.;
Kovesdi, I.;
Huard, J.

Publication type:

Article

Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families.

Published in:

Clinical Genetics, 2003, v. 64, n. 2, p. 153, doi. 10.1034/j.1399-0004.2003.00084.x

By:

Carmona, J;
Burguera, JA;
Mollà, B;
Mulas, F;
Smeyers, P;
Carratalà, F;
de Yebenes, JG;
Hoenicka, J;
Palau, F

Publication type:

Article