… LHON is the most common mitochondrial disease worldwide, … spectrum of mitochondrial
disorders that share the common … , the KSS clinical phenotype is much broader than these …

… This insertion may alter PCYT2 activity by altering active site structure or global PCYT2 … to
establish diagnosis of spastic paraplegias with broad clinical spectrum. This not only ends the …

… 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 …

… NaV1.4 is present throughout the sarcolemma but is most densely distributed at the motor
… congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. …

… 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 …

… Larger pathology-confirmed studies to validate the use of … of involvement and the spread and
distribution of the pathology … phonemic verbal fluency and global cognitive performance are …

… ) 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 …

… aspects of ocular disorders. Over the years, the book has maintained its clinical relevance
… academic curriculum, remaining contemporary with global best practices and aligning with …

… 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 …

… 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 …