ReviewBrain sciences2021
Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?
Review in Brain sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 10 citations in OpenAlex.
- Neuromodulation for Pain and Fatigue in Hereditary and Acquired Neuromuscular Conditions: A Narrative Review.Current pain and headache reports · 2026Review
- Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels.Children (Basel, Switzerland) · 2024Article
- The Role of Brain Plasticity in Neuromuscular Disorders: Current Knowledge and Future Prospects.Brain sciences · 2024Review
- Adherence and Reactogenicity to Vaccines against SARS-COV-2 in 285 Patients with Neuropathy: A Multicentric Study.Brain sciences · 2022Article
- X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in China.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2022Article
- A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.Brain sciences · 2022Article
- Physical and Mental Aspects of Quality of Life in Patients With Charcot-Marie-Tooth Disease Type 1A.Frontiers in neurology · 2022Article
- Motor Conduction Studies and Handgrip in Hereditary TTR Amyloidosis: Simple Tools to Evaluate the Upper Limbs.Frontiers in neurology · 2022Article
- Biochemical Biomarkers and Neurodegenerative Diseases.Brain sciences · 2021Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disorders to provide a practical approach to the diagnosis and the correct management of INMD. A considerable number of biomarkers have been reported that support the diagnosis of INMD, but the role of an expert clinician is crucial. Hence, the complete knowledge of such abnormalities can accelerate the diagnostic workup supporting the referral to specialists in neuromuscular disorders.
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