… These cases illustrate the utility of WES to establish diagnosis of spastic paraplegias with
broad clinical spectrum. This not only ends the diagnostic odyssey for a growing number of …

… The concept of autophagy was proposed by Christian de Duve at the international … age
may result in systemic diseases such as diabetes, vascular disease and organ-specific …

… In the present review, we highlight the clinical spectrum of … CoQ10 deficiency has shown a
broad spectrum of clinical … of the international Parkinson and movement disorder society task …

… accurately based on clinical findings due to large phenotypic overlaps. Larger pathology-…
phenotypes based on the primary site of involvement and the spread and distribution of the …

… With the wider availability of genetic testing in clinical practice… spectrum of disease severity.
At the more severe end of this … under pre-clinical investigation involves the delivery of wild-…

… ) encompass a broad group of progressive diseases affecting … 236670) is a rare disorder
with a worldwide spread; the total … The clinical spectrum of the GMPPB mutations is extremely …

… life, brain disorders are considered as a significant global healthcare … The delivery of
therapeutic agents to the specific regions of … Broadly human brain disorders are divided into two …

… This review focuses on the clinical spectrum of the disorders … clinical spectrum of
NOTCH2NLC-related disease is broader … International License, which permits use, sharing, …

… The overlapping clinical distribution of distal involvement in … a poor clinical outcome regardless
the global improvement of … Fourth, although our cohort is larger than those reported up …

… This is in line with the fact, that a larger proportion of our … be determined by the distribution
and accumulation of deleted … examination, expands the clinical spectrum of these disorders. …