Results 81 to 90 of about 27,467 (232)

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. [PDF]

, 2020
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have
A. Athanasiou-Fragkouli, A. Begtrup, A. Bisgin, A. Carr, A. Pittman, A. Richard-Loendt, A. Verrotti, A.M. Ruiz, B. Cormand, B. Garavaglia, B. Kalmar, B. O&apos, B. Perez-Duenas, B.M. Karashova, B.M. Sanchez, C. Beetz, C. Macmillan, C. Scuderi, D. Avdjieva, D. Timmann, E. Borgione, E. Dardiotis, E. Torti, E.Z. Papanicolaou, F. Al-Mutairi, F. Launchbury, G. Di Rosa, G. Heimer, G. Hotton, G. Koutsis, G. Marseglia, G. McDonnell, G. Morello, H. Houlden, H. Kathom, H. Sherifa, I. Al-Khawaja, J. Althonayan, J. McKinley, J. Mine, J.H. Livingston, J.R. Mendes de Oliveira, J.S. Goraya, L. Arning, L. Greensmith, L.V. Schottlaender, M. Aurrand-Lions, M. Breza, M. de Grandis, M. Garcia-Silva, M. Pineda-Marfa, M. Vikelis, M. Zollo, M.D. Ferrari, M.P.M. Soutar, N.N. Rana, O. Atawneh, O. Swayne, P. Giunti, P. Striano, P. Veggiotti, P.J. Morrison, R. Abeti, R. Boles, R. Forbes, R. Maroofian, R. Tincheva, S. Banu, S. Boesch, S. Brandner, S. Efthymiou, S. Groppa, S. Ibrahim, S. Khan, S. Kirmani, S. Mangano, S. Maqbool, S. Papacostas, S. Portaro, S. Savasta, S. Tug Bozdogan, T. Stojkovic, T. Sultan, V. Chelban, W. Nachbauer, Y.A. Dauvilliers, Z. Jaunmuktane   +86 more
core   +8 more sources

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

Clinical Features of Painful Ophthalmoplegia with a High-Intensity Ring Appearance around the Optic Nerve on MRI: A Case Series

Case Reports in Neurological Medicine, 2020
Objective. Painful ophthalmoplegia includes nonspecific magnetic resonance imaging (MRI) manifestations and various clinical features including orbital pain and cranial nerve palsies. Treatment for painful ophthalmoplegia remains controversial.
Yasunobu Nosaki, Ken Ohyama, Maki Watanabe, Takamasa Yokoi, Katsushige Iwai   +4 more
doaj   +1 more source

A variable neurodegenerative phenotype with polymerase gamma mutation [PDF]

, 2009
mtDNA replication and repair, causes mitochondrial diseases including autosomal dominant progressive external ophthalmoplegia (PEO),1 childhood hepato-encephalopathy (Alpers– Huttenlocher syndrome), adult-onset spinocerebellar ataxia, and sensory nerve
Baruffini, E., Endres, M., Horvath, Rita, Lodi, T., Meisel, A., Prüss, H., Siebert, E., Stricker, S., Zschenderlein, R.   +8 more
core   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Bilateral Carotid-Cavernous Fistula Following Traumatic Fall: A Case Report

Journal of the Belgian Society of Radiology
Carotid-cavernous fistulas (CCFs) are abnormal connections between the carotid arteries and the cavernous sinus, posing significant neuro-ophthalmologic risks.
Fatim Camara, Chiara Mabiglia, Thomas Bonnet   +2 more
doaj   +1 more source

Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]

, 2009
Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander, Baloyannis, Banchs, Bossy-Wetzel, Brockmann, Cassidy-Stone, Chang, Chen, Cho, Clark, D. C. Chan, de Brito, Delettre, Dodson, Exner, Fransson, Frezza, Gispert, H. Chen, Hollenbeck, Kim, Kim, Li, Liot, Lustbader, Macaskill, Meeusen, Milone, Mortiboys, Okamoto, Orr, Park, Parone, Popp, Reis, Suen, Ten Dijke, Trushina, Wang, Waterham, Wood-Kaczmar, Zuchner, Z  chner   +42 more
core   +3 more sources

Epidemiology of Progressive Supranuclear Palsy in Navarre, Spain: A Population‐Based Study

European Journal of Neurology, Volume 33, Issue 4, April 2026.
This population‐based observational retrospective epidemiological study on PSP in Navarre for 13 years represents the first in Spain and the first with application of the new MDS diagnostic criteria in Europe. It yielded 226 prevalent PSP cases. Age‐standardized point prevalence rate was 7.52/100,000 inhabitants, and age‐standardized annual incidence ...
P. Arrondo Gómez, E. Vicente, G. Martí‐Andrés, J. Sánchez Ruiz de Gordoa, I. Gastón, P. Clavero, R. Valentí, J. Delfrade, M. E. Erro   +8 more
wiley   +1 more source

Tolosa-hunt Syndrome Following COVID-19 Pandemic: A Case Series Describing the Clinical Presentations and Response to SteroidsTolosa-hunt Syndrome Following COVID-19 Pandemic: A Case Series Describing the Clinical Presentations and Response to Steroids [PDF]

Journal of Clinical and Diagnostic Research
Tolosa-Hunt Syndrome is a rare condition characterised by unilateral periorbital headache with ophthalmoplegia caused by inflammation of the superior orbital fissure or cavernous sinus.
Nimmy Jimmicha, Surya Dinesh
doaj   +1 more source

Giant cell myocarditis masquerading as orbital myositis with a rapid, fulminant course necessitating mechanical support and heart transplantation. [PDF]

, 2017
Giant cell myocarditis (GCM), a rapidly progressive inflammation of the myocardium, is associated with fulminant heart failure, refractory ventricular arrhythmias, and conduction system abnormalities.
Aksoy, Olcay, Ardehali, Reza, Garg, Vinisha, Huynh, Tracy, Shah, Janki, Tan, Weiyi   +5 more
core   +1 more source