نتایج جستجو برای: hsan type iv
تعداد نتایج: 1486865 فیلتر نتایج به سال:
abstract basement membrane of glomerular mesangium (bmg) is a thin membrane which helps to support the capillary loops in a renal glomerulus and type iv collagen is require for complete bm formation during glomerulogenesis. in this investigation specific antibody of type iv collagen has been used in light microscopy to study development of bmg of the embryonic and postnatal mouse glomerular mes...
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN Keivan Kaveh Moghadam, Fabio Pizza, Chiara La Morgia, Christian Franceschini, Caterina Tonon, Raffaele Lodi, Piero Barboni, Marco Seri, Simona Ferrari, Rocco Liguori, Vincenzo Donadio, Piero Parchi, Ferdinando Cornelio, Domenico Inzitari, Andrea Mignarri, Giuseppe Capocchi, Maria Teresa Dotti, Juliane Winkelmann, Ling Lin, Emmanuel Mignot,...
There has been tremendous progress in the detection and diagnosis of hereditary neuropathies and while the genes responsible for these rare neuropathies have improved our understanding of the development of the sensory system, they remain clinical enigmas with rare occurrences and diverse presentations. In 1963, Swanson first described two brothers with congenital insensitivity to pain, anhidro...
Study of Basement Membrane Type IV Collagen Appearance in the Brain Choroids Plexus of Mouse Fetuses
Introduction & Objective: The brain choroids plexus (BCP) plays an important role in the cerebrospinal fluid (CSF) production, but its characterization is still incomplete. Collagen type IV, is one of the most important proteins of basement membrane (BM) and extracellular matrix (ECM) of BCP. In the present study we investigated the differential period of type IV collagen in basement membrane...
defects in genes for survival motor neuron (smn) and neural apoptosis inhibitory proteins (naip) have been reported associated with spinal muscular atrophy (sma). among the genetic defects, deletions in exons 7 and 8 of smn and exons 4 and 5 of naip were found to be most significant. in the current study, 35 unrelated sma patients including 9 patients with type i, 6 with type ii, 20 with type i...
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