Associated Papers
Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.
Gaebler C et al.
Nature, 2026
41326734 (PubMed )
Supplement: 41586_2025_9893_MOESM5_ESM.xlsx › filtered_HIV_CD4_binding_putati
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 2024
39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT
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 › S2__MITNGS_S2_
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
Osmanovic A et al.
Journal of Neurology, 2020
32447552 (PubMed )
Supplement: 415_2020_9861_MOESM1_ESM.pdf
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
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia.
Park HJ et al.
Journal of Clinical Neurology (seoul, Korea), 2018
29629531 (PubMed )
Supplement: jcn-14-248-s002.pdf
Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.
Tode N et al.
Cancer Science, 2017
28294470 (PubMed )
Supplement: CAS-108-1263-s001.pdf
Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine.
Simeon V et al.
International Journal of Molecular Sciences, 2015
26263974 (PubMed )
Supplement: ijms-16-17514-s001.pdf
A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
Musova Z et al.
Cerebellum (london, England), 2014
Functional evaluation of paraplegin mutations by a yeast complementation assay.
Bonn F et al.
Human Mutation, 2010
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
Arnoldi A et al.
Human Mutation, 2008
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
Wilkinson PA et al.
Brain : a Journal of Neurology, 2004
Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology.
Nomura H et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2001
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
McDermott CJ et al.
Neurology, 2001
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