Author's response to reviews Title: Intrafamilial phenotypic heterogeneity in a Taiwanese family with MAPT p.R5H mutation: a case report and literature review Authors:
نویسندگان
چکیده
Title: Intrafamilial phenotypic heterogeneity in a Taiwanese family with MAPT p.R5H mutation: a case report and literature review Authors: Hui-Chi Lin ([email protected]) Chin-Hsien Lin ([email protected]) Pei-Lung Chen ([email protected]) Shih-Jung Cheng ([email protected]) Pei-Hao Chen ([email protected]) Version: 3 Date: 11 Sep 2017 Author’s response to reviews: Dear Dr. Tian, We highly appreciate your reminding and kind suggestions. We had rephrased parts of the manuscript, especially in pgae 5 and page 9, to avoid overlapping with our previous studies. Thank you once again for processing our manuscript.
منابع مشابه
Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review
BACKGROUND Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). W...
متن کاملAuthor’s response to reviews Title: Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review Authors:
Title: Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review Authors: Ying-Fa Chen ([email protected]) Yung-Yee Chang ([email protected]) Min-Yu Lan ([email protected]) Pei-Lung Chen ([email protected]) Chin-Hsien Lin ([email protected]) Versio...
متن کاملAuthor's response to reviews Title: Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease Authors:
Title: Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease Authors: Nikolaos Refenes ([email protected]) Juliane Bolbrinker ([email protected]) Georgios Tagaris ([email protected]) Antonio Orlacchio ([email protected]) Nikolaos Drakoulis
متن کاملA novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiac disorder affecting 1 in 1000 individuals worldwide. The mean diagnosed age of disease is 31 years. In this article, an Iranian family reported that they were affected by ARVC due to a novel PKP2 mutation. Methods: Clinical evaluations, 12-lead ECG, CMR, and signal-averaged ECG were performed. After...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2017