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Quoted phrase not found in phrase index: "Arthrogryposis, distal, type 1A"
Page 1
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
BMC Med Genet. 2018 Oct 3;19(1):179. doi: 10.1186/s12881-018-0692-8.
BMC Med Genet. 2018.
PMID: 30285720
Free PMC article.
BACKGROUND: Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. ...
BACKGROUND: Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple …
Pathophysiology of HNPP explored using axonal excitability.
Jankelowitz SK, Burke D.
Jankelowitz SK, et al.
J Neurol Neurosurg Psychiatry. 2013 Jul;84(7):806-12. doi: 10.1136/jnnp-2012-304576. Epub 2013 Feb 16.
J Neurol Neurosurg Psychiatry. 2013.
PMID: 23418209
PATIENTS AND METHODS: This study examined axonal excitability at two sites (one distal and one proximal) in five patients with biopsy and genetically proven HNPP to understand the pathophysiology of the disease. Comparisons were made with age-matched control subjects as we …
PATIENTS AND METHODS: This study examined axonal excitability at two sites (one distal and one proximal) in five patients with biopsy …
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