Results 81 to 90 of about 110,945 (357)

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca, Bukvic, Dragoslav, Bukvic, Nenad, Lovaglio, Rosaura, Loverro, Giuseppe, Mostaciuollo, Maria Luisa, Patruno, Margherita, Resta, Nicoletta, Starcevic, Srdjan, Susca, Francesco C., Vazza, Giovanni   +10 more
core   +1 more source

CASE OF PARAPLEGIA. [PDF]

The Lancet
n ...
openaire   +2 more sources

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Annals of Neurology, EarlyView.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth   +140 more
wiley   +1 more source

Clinical and genetic study of hereditary spastic paraplegia in Canada

Neurology: Genetics, 2016
Objective: To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with HSP.
N. Chrestian, N. Dupré, Z. Gan-Or, A. Szuto, Shiyi Chen, A. Venkitachalam, J. Brisson, Jodi Warman-Chardon, Sohnee Ahmed, S. Ashtiani, H. MacDonald, Noreen Mohsin, Karim Mourabit-Amari, P. Provencher, K. Boycott, D. Stavropoulos, P. Dion, P. Ray, O. Suchowersky, G. Rouleau, G. Yoon   +20 more
semanticscholar   +1 more source

The prevalence of polypharmacy increases with age among patients with inflammatory bowel disease: A nationwide cohort study

British Journal of Clinical Pharmacology, EarlyView.
Aims Polypharmacy is common in adult patients with inflammatory bowel disease (IBD). This study aims to quantify medication prescriptions and estimate the risk of polypharmacy over time in older adults with IBD. Methods In a nationwide cohort of adult incident IBD patients from 1 April 1996, to 31 December 2019, we examined medication prescriptions ...
Ken Lund, Jesper Ryg, Torben Knudsen, Jens Kjeldsen, Jan Nielsen, Sonia Friedman, Jimmy K. Limdi, Bente Mertz Nørgård   +7 more
wiley   +1 more source

Spinal myoclonus: report of four cases

Arquivos de Neuro-Psiquiatria, 1993
Four cases of spinal myoclonus are described, three males and one female. The mean age was 51 years (28-75 years). The mean time between the onset of the myelopathy and the myoclonic jerks was 4.3 months (1-8 months).
James Pitágoras de Mattos, Ana Lúcia Z. Rosso, Antonio J. V. Carneiro, Sergio Novis   +3 more
doaj   +1 more source

Investigation of robotics-assisted tilt-table therapy for early-stage rehabilitation in spinal cord injury [PDF]

, 2013
This article provides the outcome of an investigation of robotics-assisted tilt-table therapy for early-stage rehabilitation in spinal cord ...
Allan, David, Coupaud, Sylvie, Craven, Colm, Gollee, Henrik, Purcell, Mariel   +4 more
core   +1 more source

Impact of Systemic Lupus Erythematosus (SLE) on Short‐Term Outcomes of Cholecystectomy for Acute Cholecystitis: An Analysis of the US National Readmission Database, 2016–2020

Journal of Hepato-Biliary-Pancreatic Sciences, EarlyView.
ABSTRACT Background/Purpose Systemic lupus erythematosus (SLE) may impact surgical outcomes of acute cholecystitis due to immune dysfunction and systemic inflammation. This study evaluated short‐term outcomes of cholecystectomy in SLE patients using US Nationwide Readmissions Database data.
Shao Ciao Luo, Kuei‐Heng Chang, Te‐Cheng Su, He‐Yuan Hsieh, Yu‐Hsuan Shih, Hsin‐Chen Lin, Ming‐Chih Chou   +6 more
wiley   +1 more source

Comparison of the Efficacy of Surgical Decompression Alone and Combined With Canine Adipose Tissue-Derived Stem Cell Transplantation in Dogs With Acute Thoracolumbar Disk Disease and Spinal Cord Injury

Frontiers in Veterinary Science, 2019
Paraparesis and paraplegia are common conditions in dogs, most often caused by a disc herniation in the thoracolumbar spinal segments (T3-L3), which is a neurological emergency.
Fernando Swiech Bach, Carmen Lucia Kuniyoshi Rebelatto, Leticia Fracaro, Alexandra Cristina Senegaglia, Felipe Yukio Ishikawa Fragoso, Debora Regina Daga, Paulo Roberto Slud Brofman, Claudia Turra Pimpão, Jair Rodini Engracia Filho, Fabiano Montiani-Ferreira, José Ademar Villanova   +10 more
doaj   +1 more source

Healthy Nails versus Long Lives: An Analysis of a Dutch Priority Setting Proposal [PDF]

, 2020
How should governments balance saving people from very large individual disease burdens (such as an early death) against saving them from middling burdens (such as erectile dysfunction) and minor burdens (such as nail fungus)? This chapter considers this
Voorhoeve, Alex
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