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Reply to: “THAP11 CAG Expansion Beyond Chinese‐Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank”

Movement disorders, 2023-12, Vol.38 (12), p.2322-2323

2023

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CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia

Movement disorders, 2023-07, Vol.38 (7), p.1282-1293

2023

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Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.188-188, Article 188

2021

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Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis

Orphanet journal of rare diseases, 2023-02, Vol.18 (1), p.30-30, Article 30

2023

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Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre

BMC pediatrics, 2022-01, Vol.22 (1), p.65-65, Article 65

2022

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Treatment of childhood intraneural perineurioma: A case report and literature review

Heliyon, 2024-03, Vol.10 (5), p.e26089, Article e26089

2024

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Correlation of Phenotype-Genotype and Protein Structure in RYR1 -Related Myopathy

Frontiers in neurology, 2022-05, Vol.13, p.870285-870285

2022

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Pediatric Autoimmune Encephalitis: Case Series From Two Chinese Tertiary Pediatric Neurology Centers

Frontiers in neurology, 2019-08, Vol.10, p.906-906

2019

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Congenital muscular dystrophies in China

Clinical genetics, 2019-09, Vol.96 (3), p.207-215

2019

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Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-319, Article 319

2021

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Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report

Frontiers in neurology, 2022-04, Vol.13, p.869230

2022

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Unique genotype-phenotype correlations within LAMA2 -related limb girdle muscular dystrophy in Chinese patients

Frontiers in neurology, 2023-05, Vol.14, p.1158094-1158094

2023

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Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

Frontiers in genetics, 2022-03, Vol.13, p.825793-825793

2022

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A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients

Clinical genetics, 2020-05, Vol.97 (5), p.789-790

2020

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FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies

Journal of human genetics, 2016-12, Vol.61 (12), p.1013-1020

2016

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Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature

Frontiers in pediatrics, 2022-05, Vol.10, p.788353

2022

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HPLC-PDA combined with chemometrics for chemical markers of Paeoniae Radix Alba before and after sulfur-fumigated

Results in Chemistry, 2021-01, Vol.3, p.100155, Article 100155

2021

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Risdiplam in Type 1 Spinal Muscular Atrophy

The New England journal of medicine, 2021-03, Vol.384 (10), p.915-923

2021

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Prevalence of Adeno-Associated Virus-9-Neutralizing Antibody in Chinese Patients with Duchenne Muscular Dystrophy

Human gene therapy, 2024-01, Vol.35 (1-2), p.26-35

2024

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Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Lancet neurology, 2022-12, Vol.21 (12), p.1110-1119

2022

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Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies

Seizure (London, England), 2022-10, Vol.101, p.39-47

2022

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Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy

Neuromuscular disorders : NMD, 2021-11, Vol.31 (11), p.1144-1153

2021

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Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity

Diabetes (New York, N.Y.), 2017-04, Vol.66 (4), p.935-947

2017

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Effect of different initial rituximab regimens on B cell depletion in children with autoimmune neurological diseases

Multiple sclerosis and related disorders, 2022-03, Vol.59, p.103510-103510, Article 103510

2022

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Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy

Zhonghua er ke za zhi, 2015-10, Vol.53 (10), p.741

2015

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Reply to: “THAP11 CAG Expansion Beyond Chinese‐Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank”

CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia

Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy

Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre

Treatment of childhood intraneural perineurioma: A case report and literature review

Correlation of Phenotype-Genotype and Protein Structure in RYR1 -Related Myopathy

Pediatric Autoimmune Encephalitis: Case Series From Two Chinese Tertiary Pediatric Neurology Centers

Congenital muscular dystrophies in China

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report

Unique genotype-phenotype correlations within LAMA2 -related limb girdle muscular dystrophy in Chinese patients

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies

Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature

HPLC-PDA combined with chemometrics for chemical markers of Paeoniae Radix Alba before and after sulfur-fumigated

Risdiplam in Type 1 Spinal Muscular Atrophy

Prevalence of Adeno-Associated Virus-9-Neutralizing Antibody in Chinese Patients with Duchenne Muscular Dystrophy

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies

Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy

Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity

Effect of different initial rituximab regimens on B cell depletion in children with autoimmune neurological diseases

Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy

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