Cargando…

TMEM151A variants cause paroxysmal kinesigenic dyskinesia

Detalles Bibliográficos
Autores principales:	Li, Hong-Fu, Chen, Yu-Lan, Zhuang, Ling, Chen, Dian-Fu, Ke, Hua-Zhen, Luo, Wen-Jiao, Liu, Gong-Lu, Wu, Sheng-Nan, Zhou, Wen-Hao, Xiong, Zhi-Qi, Wu, Zhi-Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Singapore 2021
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8437987/ https://www.ncbi.nlm.nih.gov/pubmed/34518509 http://dx.doi.org/10.1038/s41421-021-00322-w

Ejemplares similares

Author Correction: TMEM151A variants cause paroxysmal kinesigenic dyskinesia
por: Li, Hong-Fu, et al.
Publicado: (2021)

De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia
por: Wirth, Thomas, et al.
Publicado: (2022)

Screening of the TMEM151A Gene in Patients With Paroxysmal Kinesigenic Dyskinesia and Other Movement Disorders
por: Ma, Ling-Yan, et al.
Publicado: (2022)

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features
por: Chen, Yu-Lan, et al.
Publicado: (2022)

Paroxysmal Kinesigenic Dyskinesia
por: Paucar, Martin, et al.
Publicado: (2017)

Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia
por: Zhang, Shu-Zhen, et al.
Publicado: (2015)

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
por: Wang, Jun-Ling, et al.
Publicado: (2011)

Paroxysmal Kinesigenic Dyskinesia Presented Following Concussion
por: Cottrill, Norman, et al.
Publicado: (2019)

Frequency-Specific Local Synchronization Changes in Paroxysmal Kinesigenic Dyskinesia
por: Liu, Zhi-Rong, et al.
Publicado: (2016)

PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum
por: Tan, Guo-He, et al.
Publicado: (2018)

Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis
por: CHEN, GUO-HONG
Publicado: (2015)

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China
por: Cao, Li, et al.
Publicado: (2021)

Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia
por: Kim, Aryun, et al.
Publicado: (2018)

Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics
por: Balint, Bettina, et al.
Publicado: (2018)

Depression, Anxiety, and Quality of Life in Paroxysmal Kinesigenic Dyskinesia Patients
por: Tian, Wo-Tu, et al.
Publicado: (2017)

Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29
por: Liu, Ding, et al.
Publicado: (2016)

Disruption of gray matter morphological networks in patients with paroxysmal kinesigenic dyskinesia
por: Li, Xiuli, et al.
Publicado: (2020)

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients
por: Wang, Hong-Xia, et al.
Publicado: (2016)

Misdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report
por: Pan, Fen, et al.
Publicado: (2018)

A case of paroxysmal kinesigenic dyskinesia suspected to be reflex epilepsy
por: Nakayama-Kamada, Chie, et al.
Publicado: (2021)

Elderly-Onset Paroxysmal Kinesigenic Dyskinesia: A Case Report
por: Yao, Lulu, et al.
Publicado: (2022)

Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia
por: Li, Lei, et al.
Publicado: (2020)

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
por: Hedera, Peter, et al.
Publicado: (2012)

Paroxysmal Kinesigenic Dyskinesia-like Symptoms in a Patient with Tourette Syndrome
por: Oyama, Genko, et al.
Publicado: (2011)

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion
por: Termsarasab, Pichet, et al.
Publicado: (2014)

Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa
por: Dekker, Marieke C.J., et al.
Publicado: (2020)

PRRT2 Gene Mutations in Indian Paroxysmal Kinesigenic Dyskinesia Patients
por: Prabhakara, S., et al.
Publicado: (2021)

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort
por: Lee, Yi-Chung, et al.
Publicado: (2012)

Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family
por: Ji, Zhisong, et al.
Publicado: (2014)

Aberrant Sensory Gating of the Primary Somatosensory Cortex Contributes to the Motor Circuit Dysfunction in Paroxysmal Kinesigenic Dyskinesia
por: Liu, Yo-Tsen, et al.
Publicado: (2018)

Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation
por: Chou, I-Ching, et al.
Publicado: (2014)

Cutaneous and Mixed Nerve Silent Period Recordings in Symptomatic Paroxysmal Kinesigenic Dyskinesia
por: Cogez, Julien, et al.
Publicado: (2016)

A case of paroxysmal kinesigenic dyskinesia which exhibited the phenotype of anxiety disorder
por: Kunii, Yasuto, et al.
Publicado: (2017)

Functional Neurological Disorder Overlapping Paroxysmal Kinesigenic Dyskinesia Confirmed by Genetic Diagnosis
por: Ohira, Masayuki, et al.
Publicado: (2023)

16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability
por: Li, Wen, et al.
Publicado: (2018)

Late onset of atypical paroxysmal non-kinesigenic dyskinesia with remote history of Graves’ disease
por: Rana, Abdul Qayyum, et al.
Publicado: (2013)

Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient
por: Prabhakara, S., et al.
Publicado: (2014)

Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
por: Ueda, Keisuke, et al.
Publicado: (2021)

Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report
por: Zhou, Yaping, et al.
Publicado: (2021)

Case Report: Long-Term Suppression of Paroxysmal Kinesigenic Dyskinesia After Bilateral Thalamotomy
por: Murakami, Masato, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_aclpb23dsv3e3pv510rrf7ladd