Mitochondrial disorders and the eye
E Kisilevsky, P Freund, E Margolin - Survey of Ophthalmology, 2020 - Elsevier
… 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 …
disorders that share the common … , the KSS clinical phenotype is much broader than these …
Expanding the clinical and genetic spectrum of PCYT2-related disorders
V Vélez-Santamaría, E Verdura, C Macmurdo… - Brain, 2020 - academic.oup.com
… 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 …
establish diagnosis of spastic paraplegias with broad clinical spectrum. This not only ends the …
Autophagy and aging: Roles in skeletal muscle, eye, brain and hepatic tissue
P Li, Y Ma, C Yu, S Wu, K Wang, H Yi… - Frontiers in Cell and …, 2021 - frontiersin.org
… 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 …
may result in systemic diseases such as diabetes, vascular disease and organ-specific …
Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches
E Matthews, S Balestrini, SM Sisodiya… - The Lancet Child & …, 2020 - thelancet.com
… 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. …
… congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. …
[HTML][HTML] Spectrum of movement disorders in mitochondrial diseases
O Musumeci, R Oteri, A Toscano - Journal of Translational Genetics …, 2020 - oaepublish.com
… 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 …
broad spectrum of clinical … of the international Parkinson and movement disorder society task …
Clinical spectrum of tauopathies
… 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 …
distribution of the pathology … phonemic verbal fluency and global cognitive performance are …
Clinical and molecular spectrum of muscular dystrophies (MDs) with intellectual disability (ID): A comprehensive overview
M Mohamadian, M Rastegar, N Pasamanesh… - Journal of Molecular …, 2022 - Springer
… ) 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 …
with a worldwide spread; the total … The clinical spectrum of the GMPPB mutations is extremely …
[图书][B] Parsons' diseases of the eye
R Tandon - 2023 - books.google.com
… 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 …
… academic curriculum, remaining contemporary with global best practices and aligning with …
Muscle involvement in myasthenia gravis: expanding the clinical spectrum of myasthenia-myositis association from a large cohort of patients
M Garibaldi, L Fionda, F Vanoli, L Leonardi… - Autoimmunity …, 2020 - Elsevier
… 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 …
the global improvement of … Fourth, although our cohort is larger than those reported up …
Human brain disorders: a review
F Naz, YH Siddique - The Open Biology Journal, 2020 - openbiologyjournal.com
… 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 …
therapeutic agents to the specific regions of … Broadly human brain disorders are divided into two …