Results 41 to 50 of about 1,019,022 (299)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Chronology of the Myitsone Dam at the Confluence of Rivers above Myitkyina

Journal of Current Southeast Asian Affairs, 2012
This chronology incorporates very significant material related to 2002–2010, posted on the web by “ipea-editor” on 17 January 2011, down-loaded 26 October 2011. Efforts continue to contact that person/group to acknowledge their work. Note that quotations
Editor's Appendix
doaj  

Appendiceal adenocarcinoma—Two unique cases of adenocarcinoma ex‐goblet cell carcinoid

Clinical Case Reports, 2019
Key Clinical Message We describe the different clinical presentations, radiology, histology and management of this unique, highly aggressive disease. Clinical presentation of appendicitis may not just be appendicitis.
Mairead M. Hennessy, Ivan Ivanovski
doaj   +1 more source

Mucocele of the appendix: appendectomy or colectomy?

Journal of Coloproctology, 2011
Mucocele of the appendix is a rare disease. It can be triggered by benign or malignant diseases, which cause the obstruction of the appendix and the consequent accumulation of mucus secretion.
Janduí Gomes De Abreu Filho, Erivaldo Fernandes De Lira   +1 more
doaj   +1 more source

Imaging in Appendicular Diverticulosis with Appendicitis

Journal of Gastrointestinal and Abdominal Radiology, 2020
Appendicular diverticulosis (AD) is an extremely rare condition. They are either incidentally detected in a normal or inflamed appendix or as diverticulitis manifesting clinically as appendicitis.
Aruna R. Patil, Bhushan Chaudhari, Satyajit Godhi, Swarna Shivakumar   +3 more
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Whipped and Mixed Warm Clouds in the Deep Sea

Geophysical Research Letters
Turbulence is indispensable to redistribute nutrients for all life forms larger than microbial, on land and in the ocean. Yet, the development of deep‐sea turbulence was not studied in three dimensions to date.
Hans vanHaren, KM3NeT collaboration
doaj   +1 more source

Amyand′s hernia

Journal of Indian Association of Pediatric Surgeons, 2011
We report two children with Amyand′s hernia, where the appendices along with caecum were found within the left hernial sac, which were operated for obstructed inguinal hernia.
Kulwant Singh, Rana Ranjit Singh, Sundeep Kaur   +2 more
doaj   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Mucocèle appendiculaire

Avicenna Medical Research, 2022
Appendicular mucocele is a rare condition defined by a mucinous distention of the appendicular lumen. The most severe complication is the intra-peritoneum rupture also called pseudomyxoma peritonei.
R BELOUZ, I BOUDIS, M CHERBAL, M.S CHENNINE, I.R GASMI, M SAIDANI   +5 more
doaj   +1 more source