Cargando…

A Novel WARS2 Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to Trihexyphenidyl

Detalles Bibliográficos
Autores principales:	Mihaylova, Violeta, Herenger, Yvan, Bethge, Tobias, Bohlhalter, Stephan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2023
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329917/ https://www.ncbi.nlm.nih.gov/pubmed/37417438 http://dx.doi.org/10.3988/jcn.2022.0410

Ejemplares similares

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient
por: Mihaylova, Violeta, et al.
Publicado: (2020)

Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome
por: Romeo, Domenico M., et al.
Publicado: (2020)

Spinocerebellar Ataxia 28 Presenting as Predominantly Generalized Dystonia
por: Raj, Jidhin, et al.
Publicado: (2021)

Successful Use of Risperidone, Trihexyphenidyl, and Paroxetine in Pregnancy
por: Goyal, Sandeep Kumar, et al.
Publicado: (2017)

MUNCHAUSEN' SYNDROME AND TRIHEXYPHENIDYL DEPENDENCE
por: Qureshi, N.A., et al.
Publicado: (1993)

Trihexyphenidyl Misuse in Delusional Disorder
por: Mahal, Pankaj, et al.
Publicado: (2018)

TRIHEXYPHENIDYL DEPENDENCE—REPORT OF TWO CASES
por: Michael, Albert, et al.
Publicado: (1984)

Simultaneous Spectrophotometric Estimation of Haloperidol and Trihexyphenidyl in Tablets
por: Wate, S. P., et al.
Publicado: (2010)

Inclusion complexes of trihexyphenidyl with natural and modified cyclodextrins
por: Maeda, Hideko, et al.
Publicado: (2015)

Trihexyphenidyl hydrochloride: a powder diffraction study
por: Maccaroni, Elisabetta, et al.
Publicado: (2010)

Crystal structures of four organic salts of trihexyphenidyl at 90 K
por: Vinaya, et al.
Publicado: (2023)

DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia
por: Shashi, Sridhar, et al.
Publicado: (2023)

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia
por: Masuho, Ikuo, et al.
Publicado: (2016)

Childhood-Onset Generalized Dystonia Due to NDUFA9 Gene Mutation: An Expansion of Mutations Causing Leigh’s Syndrome
por: Singh, Raviprakash, et al.
Publicado: (2023)

Blepharospasm plus Cervical Dystonia with Predominant Anterocollis: A Distinctive Subphenotype of Segmental Craniocervical Dystonia
por: Waln, Olga, et al.
Publicado: (2011)

Successful Pallidal Deep Brain Stimulation in a Patient with Childhood-Onset Generalized Dystonia with ANO3 Mutation
por: Yoo, Dallah, et al.
Publicado: (2019)

Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report
por: Aljaffer, Mohammed A, et al.
Publicado: (2022)

Generalized dystonia without Parkinsonism in an LRRK2 carrier
por: Díaz-Feliz, Lola, et al.
Publicado: (2022)

Trihexyphenidyl induced malignant hyperthermia in a patient with Parkinson's disease complicated with pneumonia: A case report
por: Zhao, Jun, et al.
Publicado: (2020)

A rare case of neurosyphilis presenting as generalized dystonia with bilateral cerebellar infarctions
por: Nuzhnyi, Evgenii, et al.
Publicado: (2022)

Blacksmith’s Dystonia Is Another Task-Specific Dystonia: From Past to Present
por: Kim, Min Seung, et al.
Publicado: (2022)

Cervical Dystonia with Cerebellar Ataxia in KCNA1 Mutation: A Phenotypic Expansion
por: Mahale, Rohan R., et al.
Publicado: (2022)

Long-term trihexyphenidyl exposure alters neuroimmune response and inflammation in aging rat: relevance to age and Alzheimer’s disease
por: Huang, Yuqi, et al.
Publicado: (2016)

Centrally acting anticholinergic drug trihexyphenidyl is highly effective in reducing nightmares associated with post‐traumatic stress disorder
por: Sogo, Katsumasa, et al.
Publicado: (2021)

Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability
por: Steinrücke, Sofia, et al.
Publicado: (2016)

ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia
por: Sheerin, Una-Marie, et al.
Publicado: (2014)

FLUOXETINE INDUCED ACUTE DYSTONIA
por: Biradar, M.S., et al.
Publicado: (1996)

Coactivation sign in fixed dystonia
por: Mehta, Arpan R., et al.
Publicado: (2013)

Call Center Operator’s Dystonia
por: Lee, Dokyung, et al.
Publicado: (2019)

Lithium-Induced Lingual Dystonia
por: Aggarwal, Ramesh, et al.
Publicado: (2020)

Resting-State Pallidal-Cortical Oscillatory Couplings in Patients With Predominant Phasic and Tonic Dystonia
por: Yokochi, Fusako, et al.
Publicado: (2018)

Adult-Onset Walking-Upstairs Dystonia
por: Portaro, Simona, et al.
Publicado: (2019)

Lıngual Dystonıa Related to the use of Cınnarızıne
por: Eruyar, Esra, et al.
Publicado: (2023)

A Novel Reduced Graphene Oxide Modified Carbon Paste Electrode for Potentiometric Determination of Trihexyphenidyl Hydrochloride in Pharmaceutical and Biological Matrices
por: Radić, Josip, et al.
Publicado: (2021)

Nodular Lymphocyte-Predominant Hodgkin Lymphoma in a Patient with Familial Mediterranean Fever
por: Belia, Marina, et al.
Publicado: (2022)

Atypical presentation of dystonia in a polydrug user
por: Singh, Gurvinder Pal, et al.
Publicado: (2013)

Task-Specific Oromandibular Dystonia in a Telemarketer
por: Kim, SeonDeuk, et al.
Publicado: (2019)

Reversal of motor-skill transfer impairment by trihexyphenidyl and reduction of dorsolateral striatal cholinergic interneurons in Dyt1 ΔGAG knock-in mice
por: Yokoi, Fumiaki, et al.
Publicado: (2021)

Physicians and War
por: DeMaria, Anthony N.
Publicado: (2022)

Late-Onset Dystonia With THAP1 Mutation (DYT6) in South Korea: A Case Report and Literature Review
por: Chang, Hee Jin, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_1ggq0dhplqce68lj0hc9sni5fh