Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions. [PDF]
Willems M +5 more
europepmc +1 more source
Dementia-linked amyloidosis is associated with brain protein deamidation as revealed by proteomic profiling of human brain tissues [PDF]
core +1 more source
Ancient Origins of Cytoskeletal Crosstalk: Spectraplakin-like Proteins Precede the Emergence of Cortical Microtubule Stabilization Complexes as Crosslinkers. [PDF]
Paradžik T +3 more
europepmc +1 more source
Papel de la antitrombina más allá de la hemostasia [PDF]
La antitrombina es una glicoproteína secretada principalmente por el hígado y perteneciente a la superfamilia de las serpinas, que son inhibidores de serín proteasas, como algunas proteínas de la cascada de la coagulación, siendo, de hecho, el principal ...
Peñas Martínez, Julia
core
Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant. [PDF]
Ahmad R, Zamani M, Naeem M, Houlden H.
europepmc +1 more source
Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severedystonia musculorummouse model for hereditary sensory and autonomic neuropathy type VI [PDF]
Anisha Lynch‐Godrei +4 more
openalex +1 more source
Tyrosine kinase signaling pathways as therapeutic targets in autoimmune subepidermal blistering skin diseases (pemphigoid diseases). [PDF]
Vikár S, Mócsai A.
europepmc +1 more source
A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family. [PDF]
Munir A +12 more
europepmc +1 more source
Diagnostic Techniques in Autoimmune Blistering Diseases. [PDF]
Mee JB.
europepmc +1 more source

