Results 121 to 130 of about 13,407 (248)

Two families with autosomal dominant progressive external ophthalmoplegia [PDF]

, 2004
Stefan Kiechl
openalex   +1 more source

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies [PDF]

, 2017
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Appleton, Richard, Bertini, Enrico, Brockington, Martin, Brown, Susan, Bushby, Kate, D'Amico, Adele, Feng, Lucy, Jungbluth, Heinz, Kinali, Maria, Manzur, Adnan, Messina, Sonia, Muntoni, Francesco, Müller, Clemens R., Quinlivan, Ros, Robb, Stephanie, Roper, Helen, Rose, Michael R., Sewry, Caroline A., Straub, Volker, Swash, Michael, Treves, Susan, Zhou, Haiyan   +21 more
core  

Diplopia and eye movement disorders.

, 2004
Published ...
Danchaivijitr, C, Kennard, C
core   +2 more sources

Functional characterisation of mitochondrial tRNA^Tyrmutation (5877G→A) associated with familial chronic progressive external ophthalmoplegia [PDF]

, 2001
Ko Sahashi, Makoto Yoneda, Kinji Ohno, Masashi Tanaka, Tohru Ibi, Kentaro Sahashi   +5 more
openalex   +1 more source

The multiple ADP/ATP translocase genes are differentially expressed during human muscle development [PDF]

, 1992
The expression of the genes encoding the three isoforms of the human ADP/ATP translocase (T1, T2, and T3) has been analyzed at different stages of myogenic differentiation in an in vitro muscle cell system and compared with that in mature muscle.
Attardi, Giuseppe, Engel, W. King, Hurko, Orest, Lunardi, Joël   +3 more
core  

Stimuli-Induced Decorticate Rigidity in Bickerstaff Brainstem Encephalitis

Annals of Internal Medicine: Clinical Cases
Bickerstaff brainstem encephalitis (BBE) is an immune-mediated disorder characterized by external ophthalmoplegia, ataxia, and altered consciousness. It is often triggered by preceding infection. Herein, a case of BBE with positive anti-GM1 and anti-GD1a
Ryoma Takahashi, Jun Imaizumi, Daisuke Ishikawa, Hiroo Kasahara, Yoshio Ikeda   +4 more
doaj   +1 more source

MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO). [PDF]

J Neuromuscul Dis, 2023
Baskar D, Vengalil S, Nashi S, Bardhan M, Srivastava K, Sanka SB, Polavarapu K, Menon D, Preethish-Kumar V, Padmanabha H, Arunachal G, Nalini A.   +11 more
europepmc   +1 more source

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant

, 2020
Pushpa Raj Joshi, Karen Baty, Sila Hopton, Isabell Cordts, Gavin Falkous, Benedikt Schoser, Emma L. Blakely, Robert W. Taylor, Marcus Deschauer   +8 more
openalex   +1 more source

Videographic analysis of blink dynamics in patients with chronic progressive external ophthalmoplegia, myogenic ptosis, and facial nerve palsy using smartphone camera: A comparative analysis. [PDF]

Health Sci Rep, 2023
Hedayati Amlashi N, Rajabi MT, Shafie M, Heidarzadeh S, Rajabi MB, Hosseini SS, Haadi A, Soltani P.   +7 more
europepmc   +1 more source

A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12 [PDF]

, 2004
Alex Lossos
openalex   +1 more source