Last Posted: Oct 08, 2021
- A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane Andre et al. Journal of neuromuscular diseases 2021
- Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
Argente-Escrig Herminia et al. Annals of clinical and translational neurology 2021
- Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies.
Pisciotta Chiara et al. Expert review of neurotherapeutics 2021
- Next-Generation Sequencing Technologies and Neurogenetic Diseases.
Sun Hui et al. Life (Basel, Switzerland) 2021 11(4)
- The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME .
Senderek Jan et al. Neurology 2020 Nov
- Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy.
Argente-Escrig Herminia et al. Neurology 2020 Oct
- Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Laurá Matilde et al. Current opinion in neurology 2019 32(5) 641-650
- Genetic approaches to the treatment of inherited neuromuscular diseases.
Ravi Bhavya et al. Human molecular genetics 2019 28(R1) R55-R64
- Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese Andrea et al. Neurology 2020 Jan 94(1) e51-e61
- Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet Juliette et al. BMJ open 2018 8(10) e021632
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.