Ningning Wang

12 Middle Wulumuqi Road
Shanghai, 200040, China

Last Updated: 09/26/2026

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Found 11 publications

PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy.

PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy.

Journal: Health information science and systems

Published: November 25, 2025

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Journal: Neuromuscular disorders : NMD

Published: May 26, 2025

Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy.

Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy.

Journal: Journal of human genetics

Published: February 21, 2025

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.

Journal: Stem cell research

Published: July 05, 2024

4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy-Like Phenotype.

4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy-Like Phenotype.

Journal: The Journal of molecular diagnostics : JMD

Published: July 04, 2024

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Journal: Journal of inherited metabolic disease

Published: June 12, 2024

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Journal: Journal of medical genetics

Published: May 30, 2024

Long-term impact of nusinersen on motor and electrophysiological outcomes in adolescent and adult spinal muscular atrophy: insights from a multicenter retrospective study.

Long-term impact of nusinersen on motor and electrophysiological outcomes in adolescent and adult spinal muscular atrophy: insights from a multicenter retrospective study.

Journal: Journal of neurology

Published: March 28, 2024

Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing.

Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing.

Journal: The Journal of molecular diagnostics : JMD

Published: September 21, 2023

Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.

Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.

Journal: JIMD reports

Published: August 04, 2023

Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.

Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.

Journal: Muscle & nerve

Published: July 25, 2023

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Last Updated: 09/26/2026