Natural History in Neurogenetic Disorders: Molecular Characterization in the NGS Era
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".
Deadline for manuscript submissions: closed (29 February 2024) | Viewed by 229
Special Issue Editor
2. Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy
Interests: neurogenetics; neurological diseases; neurodegeneration; clinical neurophysiology; neuromuscular disorders
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The breakthrough of next-generation sequencing (NGS) technologies has significantly changed the diagnostic approach to inherited neurological disorders. NGS techniques allow for rapid and inexpensive large-scale genomic analysis, creating unprecedented opportunities to integrate genomic data into the clinical phenotyping and management of subjects with neurogenetics diseases. In particular, a deep-phenotyping approach is essential for correctly interpreting genetic variants and reevaluating patients who lack a conclusive genetic diagnosis. Some examples include mitochondrial diseases, neuromuscular disorders, hereditary spastic paraplegia and hereditary ataxias. Furthermore, next-generation sequencing techniques provide powerful ways of interrogating the epigenome and, in combination with other omics technologies, could contribute to identifying new disease mechanisms.
For this Special Issue entitled “Natural History in Neurogenetic Disorders: Molecular Characterization in the NGS Era”, we are looking for original research articles and state-of-the-art reviews on the molecular characterization of neurogenetic disorders.
Dr. Guido Primiano
Guest Editor
Manuscript Submission Information
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Keywords
- neurological disorders
- neurogenetic diseases
- next-generation sequencing
- mitochondrial diseases
- hereditary spastic paraplegia
- hereditary ataxias
- neuromuscular disorders
- neurodegenerative diseases
