Last Posted: May 11, 2023
- Relationship between care pathway features and use or non-use of orthotic devices by individuals with Charcot-Marie-Tooth disease: a cross-sectional, exploratory study.
Cédric Blouin et al. Disabil Rehabil 2023 1-11
- Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome.
Dulski JarosLaw et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-4
- Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.
Record Christopher J et al. Journal of neurology, neurosurgery, and psychiatry 2022
- Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases.
Andries Aristomo et al. Journal of neuromuscular diseases 2022
- 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
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 Public Health Genomics Branch 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.
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- Page last updated:Mar 03, 2024
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