[PDF] Top 20 Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
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Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
... the clinical presentation of P1 and his ...However, optic at- rophy was evident in all the other OPA1 -mutant sub- jects, being often the first and main symptom; in contrast, in our patients overt ... See full document
10
Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics
... The OPA1 protein is associated with different func- tions, such as maintenance of the respiratory chain and membrane potential [45], cristae organization and con- trol of apoptosis [46], as well as ... See full document
12
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
... As mutations in COL1A1 gene are usually associated with Osteogenesis Imperfecta (OI) we performed a lit- erature search to find possible reported cases with OI and associated ...glaucomatous ... See full document
12
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy
... the OPA1 gene ...well-defined clinical picture for non-syndromic ...of associated extra-ocular symp- toms, either in the thorough clinical investigations by ... See full document
13
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
... of mutations in SSBP1 in families with dominant optic ...previously associated with ADOA or maculopathy was present in these ...frameshift mutations in coding regions, we focused our ... See full document
15
Dominant optic atrophy
... and associated to the inner mitochondrial membrane, due to the presence of at least one transmembrane domain in their sequence ...In OPA1 , 27% of the mutations are missense, 27% are splice variant, ... See full document
12
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
... Significant clinical overlap exists between the 4 previously and 3 newly reported patients harboring truncating MT-ATP6 mutations and those with missense MT-ATP6 ...these clinical manifestations, ... See full document
11
Original Article A distinct form of retinitis pigmentosa with retinal vascular occlusion
... the clinical characteristics of patients with retinitis pig- mentosa and progressive retinal vascular occlusion were published in Chinese Journal of Ophthalmology in 2005 ...the clinical fea- tures of ... See full document
9
COG5-CDG: expanding the clinical spectrum
... the spectrum, pre- senting with severe mental retardation, displayed further clinical deterioration ...thermore, clinical features of patients on the severe end of the spectrum overlap with ... See full document
10
Clinical spectrum of tuberculous optic neuropathy
... In our series of 49 cases of tuberculous optic neuropathy, the disease was typically unilateral, and the majority of patients presented with painless loss of vision. More than two thirds (69.4 %) of the affected ... See full document
7
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
... the dominant OPA3 mutations may exhibit considerable phenotypic variability, so it is also possible that the families or individuals with the same mutation may or may not develop additional features such as ... See full document
11
Not for industry only: medical students and office-based academic detailing the PIVOT (Pregnant women Influenza Vaccine Optimization Team) initiative
... We quickly began to appreciate the importance of hav- ing print copies of all of our primary source materials with us at every encounter. Many providers trusted the facts and statistics we presented, and even most of ... See full document
5
<p>Anesthetic Strategies in Oncological Surgery: Not Only a Simple Sleep, but Also Impact on Immunosuppression and Cancer Recurrence</p>
... in vitro and in vivo. 42 Furthermore, lidocaine diminishes also the formation and function of tubulin micro-tentacles of tumoral cells, reducing their spread into the blood. 43 Similar fi ndings were also reported by ... See full document
10
Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
... that only homoplasmic LHON mutations are associated with disease, then homoplas- mic LHON mutations overlap with MS in approxi- mately 1 in 400,000 of the UK ...mtDNA mutations and a ... See full document
10
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
... progressive optic atrophy and sensorineural hearing loss developed, and 9 years later she wears hearing aids for bilateral moderate-to-severe upsloping sensorineural hearing ...bilateral optic ... See full document
9
Not-only-a-title
... Luigi Grassi, MD Director Unit of Psycho-Oncology Azienda Ospedaliera Universitaria di Ferrara Arcispedale S. Anna, Ferrara, Italy I have read all of these materials and I think the debate is interesting. Naming ... See full document
10
OPTIC ATROPHY IN CHILDHOOD
... Two children, ages 7 and 13 years, pre- sented with unilateral visual loss, optic. atrophy with central scotomas, with his-[r] ... See full document
12
The One, But Not the Only
... Similar to how Intelligence relies on The One, The Soul depends on Intelligence. Through multiplicity, or the process of creating more, The Soul forms directly from Intelligence. In a similar manner as before, The Soul ... See full document
6
Only connect
... society. Only those institutions capable of demonstrating a track record of delivering ‘impact’ and ‘outcomes’ from their research will be rewarded, with “potentially disastrous” [8] consequences for the ... See full document
6
Focus on “Only” and “Not”
... FOCUS ON 'ONLY' AND 'NOT' F()C, I )N "()NI X" ANI) "N()T" A l l a n I b m l s a y I ) e l ) l o1! (2onll)Ul;(+r Sci('nc( , [ ) u i v c r s i t ; v (<,ollcgc I ) u l ) t i n , al lan(~monkey, u c d i e[.] ... See full document
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