Associated Papers
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Saveri P et al.
Cells, 2020
32326241 (PubMed )
Supplement: cells-09-01028-s001.zip › Table_S3.xlsx › 2449_S14_L001_annot_extract.tab
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
Sivera R et al.
Journal of the Peripheral Nervous System : Jpns, 2010
GDAP1 mutations in Czech families with early-onset CMT.
Baránková L et al.
Neuromuscular Disorders : Nmd, 2007
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Claramunt R et al.
Journal of Medical Genetics, 2005
[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].
Zhang RX et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
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