Proximal Spinal Muscular Atrophy
What's New
Last Posted: Jun 23, 2023
- Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Julian Theuriet et al. Eur J Hum Genet 2023 - Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
Stabley Deborah L, et al. Neurogenetics 2021 0 (1) 53-64 - Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
Qu Yu-Jin, et al. The Journal of molecular diagnostics : JMD 2016 0 (5) 741-752 - Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
Rudnik-Schöneborn Sabine et al. Eur. J. Hum. Genet. 2015 May 20. - Clinical utility gene card for: proximal spinal muscular atrophy.
- Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran.
Sedghi Maryam, et al. Advanced biomedical research 2014 0 74 - SMN1 gene duplications are more frequent in patients with progressive muscular atrophy.
Ku?ma-Kozakiewicz Magdalena, et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2013 9 (5-6) 457-62 - Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
Tiziano FD, et al. European journal of human genetics : EJHG 2012 10 - Proximal spinal muscular atrophy
From NCATS Genetic and Rare Diseases Information Center
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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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- 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.
- Page last reviewed:Feb 1, 2024
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