Results 81 to 90 of about 738,883 (337)

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Single cell analysis reveals the involvement of the long non-coding RNA Pvt1 in the modulation of muscle atrophy and mitochondrial network [PDF]

, 2019
Long non-coding RNAs (lncRNAs) are emerging as important players in the regulation of several aspects of cellular biology. For a better comprehension of their function, it is fundamental to determine their tissue or cell specificity and to identify their
Alessio, Enrico, Bertoli, Alessandro, Buson, Lisa, Cagnin, Stefano, Chemello, Francesco, Grespi, Francesca, Lanfranchi, Gerolamo, Martini, Paolo, Massimino, Maria L, Millino, Caterina, Pacchioni, Beniamina, Peggion, Caterina, Romualdi, Chiara, Scorrano, Luca   +13 more
core   +1 more source

Diagnostic Challenge: The Case of a 70‐Year‐Old Man Who Presents With Progressive Vision Loss and Headaches

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 70‐year‐old presents with 6 weeks of progressive bilateral vision loss and headaches. He was also recently treated for presumed sciatica. His exam on admission is notable for poor visual acuity (no light perception), optic nerve atrophy bilaterally with swelling and disc hemorrhage on the left eye and left foot drop.
Malya Sahu, Rohini Samudralwar
wiley   +1 more source

SARS‐CoV‐2 Is Linked to Brain Volume Loss in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The impact of SARS‐CoV‐2 infection on brain and spinal cord pathology in patients with multiple sclerosis (pwMS) remains unclear. We aimed to describe changes in brain lesion activity and brain and spinal cord volumes following SARS‐CoV‐2 infection.
Tomas Uher, Dominika Stastna, Ingrid Menkyova, Vaclav Capek, Jiri Lindner, Petra Nytrova, Jan Krasensky, Eliza Varju, Miguel D'haeseleer, Eva Kubala Havrdova, Dana Horakova, Manuela Vaneckova, Niels Bergsland   +12 more
wiley   +1 more source

Helicobacter pylori Infection with Atrophic Gastritis Is an Independent Risk Factor for Advanced Colonic Neoplasm

Gut and Liver, 2016
Background/AimsHelicobacter pylori is a major risk factor for atrophic gastritis (AG) and gastric cancer. The correlation between H. pylori, AG and colorectal neoplasm (CRN) has only been examined in a limited number of studies, and findings have been ...
Ji Young Lee, Hye Won Park, Ji Young Choi, Jong-Soo Lee, Ja Eun Koo, Eun Ju Chung, Hye-Sook Chang, Jaewon Choe, Dong-Hoon Yang, Seung-Jae Myung, Hwoon-Yong Jung, Suk-Kyun Yang, Jeong-Sik Byeon   +12 more
doaj   +1 more source

Stress responsive miR-23a attenuates skeletal muscle atrophy by targeting MAFbx /atrogin-1 [PDF]

, 2008
Muscle atrophy occurs in many pathological states and results primarily from accelerated protein degradation by the ubiquitin-proteasome pathway. We used dexamethasone to induce muscle wasting and investigated the role of a microRNA (miRNA) in the ...
Hiroshi Asahara, Katsuhiko Suzuki, Mitsuharu Okutsu, Shigeru Miyaki, Shogo Wada, Takashi Ushida, Takayuki Akimoto, Yoshio Kato, Zhen Yan   +8 more
core   +1 more source

The value of hippocampal and temporal horn volumes and rates of change in predicting future conversion to AD. [PDF]

, 2012
Hippocampal pathology occurs early in Alzheimer disease (AD), and atrophy, measured by volumes and volume changes, may predict which subjects will develop AD.
ADNI investigators, Barnes, Josephine, Bartlett, Jonathan W, Leung, Kelvin K, Macdonald, Kate E, Ourselin, Sebastien   +5 more
core   +1 more source

The Inheritance of Peripapillary Atrophy [PDF]

Investigative Opthalmology & Visual Science, 2007
To estimate the relative importance of genes and environment in peripapillary atrophy type beta (beta-PPA) in a classic twin study.Female twin pairs (n = 506) aged 49 to 79 years were recruited from the St. Thomas' UK Adult Twin Registry. Peripapillary atrophy was identified from masked grading of stereoscopic optic disc photographs.
Paul R. Healey, Dongliang Ge, Harold Snieder, Harold Snieder, Paul Mitchell, Anne J. Lee, Tim D. Spector, Clare Gilbert, Christopher J Hammond   +8 more
openaire   +4 more sources

Amyotrophic Lateral Sclerosis as a Multistep Process in the United States: A Population‐Based Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease that typically results in death within 3–5 years from symptom onset. However, little is known about the environmental exposures, clinical aspects, or social determinants of health factors that may be associated with the disease.
Jasmine Berry, Jaime Raymond, Theodore Larson, D. Kevin Horton, Moon Han, Theresa Nair, Ammar Al‐Chalabi, Paul Mehta   +7 more
wiley   +1 more source

Clinical Practice Guideline for Gastritis in Korea [PDF]

The Korean Journal of Helicobacter and Upper Gastrointestinal Research
Gastritis is a disease characterized by inflammation of the gastric mucosa. It is very common and has various classification systems such as the updated Sydney system.
Seung Joo Kang, Jae Gyu Kim, Hee Seok Moon, Myeong-Cherl Kook, Jong Yeul Lee, Chang Seok Bang, Chung Hyun Tae, Eun Jeong Gong, Su Youn Nam, Hyun Jung Kim,   +10 more
doaj   +1 more source