Results 131 to 140 of about 50,073 (291)

Use of Transmitochondrial Cybrids To Assign a Complex I Defect to the Mitochondrial DNA-Encoded NADH Dehydrogenase Subunit 6 Gene Mutation at Nucleotide Pair 14459 That Causes Leber Hereditary Optic Neuropathy and Dystonia [PDF]

, 1996
Albert S. Jun, Ian A. Trounce, Michael D. Brown, John M. Shoffner, Douglas C. Wallace   +4 more
openalex   +1 more source

Stroke Mimicking Thalamotomy in Primary Familial Brain Calcification

Movement Disorders Clinical Practice, EarlyView.
Jaakko Kungshamn, Emma Ottela, Olli Likitalo, Anna Brück, Juho Joutsa   +4 more
wiley   +1 more source

Human deafness dystonia syndrome is a mitochondrial disease [PDF]

, 1999
Carla M. Koehler, Danielle Leuenberger, Sabeeha Merchant, Anja Renold, Tina Junne, Gottfried Schatz   +5 more
openalex   +1 more source

Subjective Well‐Being and Its Predictors in Parkinson's Disease and Dystonia: A Comparative Study

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Quality of life (QoL) is a commonly used outcome measure in people with chronic neurological diseases (CND). As valuable as QoL is, it does not take into account aspects of subjective well‐being (SWB) such as subjective happiness, meaning in life, life satisfaction and hope; all constructs that are considered central to well‐being ...
Suzette Shahmoon, Dejan Georgiev, Paul Jarman, Kailash Bhatia, Patricia Limousin, Marjan Jahanshahi   +5 more
wiley   +1 more source

Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution [PDF]

, 1996
Barbara Leube
openalex   +1 more source

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single‐Center Neurogenetics Clinic

Movement Disorders Clinical Practice, EarlyView.
Abstract Background As advanced molecular testing is incorporated into routine clinical practice, accessibility and yield remain limited. Objectives We propose a simplified and effective workup strategy to maximize diagnostic yield based on presented diagnostic yield of rare movement disorders at a tertiary Neurogenetics Clinic.
Dvir Penn, Yam Amir, Gil Ben David, Alina Kurolap, Dalit Barel, Uri Hamiel, Michal Bach, Emil Elhanan, Tali Barkan, Daphna Marom, Adi Mory, Noga Simantov, Gadi Maayan Eshed, Achinoam Faust‐Socher, Vered Livneh, Avner Thaler, Nurit Omer, Tamara Shiner, Nir Giladi, Tanya Gurevich, Hagit Baris Feldman, Roy N. Alcalay, Yuval Yaron, Penina Ponger   +23 more
wiley   +1 more source

Rescue globus pallidus deep brain stimulation following refractory dystonia treated with subthalamic nucleus deep brain stimulation: illustrative case. [PDF]

J Neurosurg Case Lessons
Ambreen Y, Brandon C, Jordan Z, Dalm B.
europepmc   +1 more source

The natural history of tardive dystonia. A long-term follow-up study of 107 cases [PDF]

, 1998
V Kiriakakis, Kailash P. Bhatia, N. Quinn, C. D. Marsden   +3 more
openalex   +1 more source

Abrupt and Severe Onset of Dystonia, Chorea and Hemiplegic Episodes in a Young Boy with a Novel Heterozygous Missense Variant in the GTPase Domain of RHOBTB2

Movement Disorders Clinical Practice, EarlyView.
Phuong T. Hoang, Ian O. Bledsoe, Marta San Luciano   +2 more
wiley   +1 more source

Neurobiology of Dystonia: Review of Genetics, Animal Models, and Neuroimaging. [PDF]

Brain Sci
Rissardo JP, McGarry A, Shi Y, Caprara ALF, Walker IM.   +4 more
europepmc   +1 more source