Associated Papers
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM3_ESM.pdf
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.
Kulsirichawaroj P et al.
Journal of Neuromuscular Diseases, 2024
A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients.
Tran VK et al.
Frontiers in Pediatrics, 2024
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.
Rzepnikowska W et al.
International Journal of Molecular Sciences, 2022
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.
Pensato V et al.
Journal of Clinical Medicine, 2020
Spinal Muscular Atrophy With Respiratory Distress Type 1-A Child With Atypical Presentation.
Chiu ATG et al.
Child Neurology Open, 2018
Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.
Martin J et al.
Fertility and Sterility, 2015
One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.
Litvinenko I et al.
Journal of Child Neurology, 2014
A new nonsense mutation of the IGHMBP2 gene responsible for the first case of SMARD1 in a Sardinian patient with giant cell hepatitis.
Fanos V et al.
Neuropediatrics, 2010
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
Guenther UP et al.
Journal of Molecular Medicine (berlin, Germany), 2009
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Le Ber I et al.
Current Neurology and Neuroscience Reports, 2005
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K et al.
Annals of Neurology, 2003
Select a paper to view details