Results 61 to 70 of about 87,063 (285)

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Altered interplay between endoplasmic reticulum and mitochondria in Charcot–Marie–Tooth type 2A neuropathy

Proceedings of the National Academy of Sciences of the United States of America, 2019
Significance Interactions between mitochondria and the endoplasmic reticulum (ER) at the level of mitochondria-associated membranes (MAM) constitute a key signaling hub, emerging as a shared target altered in multiple neurodegenerative diseases.
N. Bernard-Marissal, Gerben van Hameren, M. Juneja, Christophe Pellegrino, L. Louhivuori, Luca Bartesaghi, C. Rochat, Omar El Mansour, Jean‐Jacques Médard, Marie Croisier, Catherine Maclachlan, O. Poirot, P. Uhlén, V. Timmerman, N. Tricaud, B. Schneider, R. Chrast   +16 more
semanticscholar   +1 more source

Systematic review of techniques to monitor remission of acute Charcot neuroarthropathy in people with diabetes

Diabetes/Metabolism Research Reviews, 2020
The management of acute Charcot neuroarthropathy relies on off‐loading which is costly and time‐consuming. Published studies have used monitoring techniques with unknown diagnostic precision to detect remission.
C. Gooday, Katie Gray, F. Game, J. Woodburn, F. Poland, W. Hardeman   +5 more
semanticscholar   +1 more source

Topographical Variation of Iron‐Rimmed Lesions in the Multiple Sclerosis Brain and Spinal Cord: A Neuropathological Study

Annals of Neurology, EarlyView.
Paramagnetic‐rim lesions are a novel diagnostic marker in multiple sclerosis (MS) and are associated with poor prognosis due to their link with chronic inflammation and disease progression. Analyzing 46 postmortem MS cases, researchers found no iron rims in 67 white matter and 85 grey matter spinal cord lesions, despite most being active.
Marco Pisa, Andrew Lockhart, Thomas Angell, Aimee Avery, Zaenab Dhari, Mary Bailey, Simon Hametner, Hal Drakesmith, Monika Hofer, Clara Limbaeck, Gabriele C DeLuca   +10 more
wiley   +1 more source

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]

, 2016
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 more
core   +4 more sources

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Annals of Clinical and Translational Neurology, 2020
ITPR3, encoding inositol 1,4,5‐trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot‐Marie‐Tooth neuropathy.
Julius Rönkkö, S. Molchanova, Anya Revah-Politi, E. Pereira, M. Auranen, J. Toppila, J. Kvist, Anastasia Ludwig, Julika Neumann, G. Bultynck, S. Humblet-Baron, A. Liston, A. Paetau, Claudio Rivera, M. Harms, H. Tyynismaa, E. Ylikallio   +16 more
semanticscholar   +1 more source

Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich

Arquivos de Neuro-Psiquiatria, 1972
Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída ...
Charles Peter Tilbery, Décio Cassiani Altimari, Luiz G. Gagliardi-Ferreira, José L. Alonso Nieto   +3 more
doaj   +1 more source

What's the Function of Connexin 32 in the Peripheral Nervous System? [PDF]

, 2018
Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating
Bortolozzi, Mario
core   +1 more source

Acute Charcot foot [PDF]

BMJ, 2012
#### Key points A 38 year old man was referred by his general practitioner to our diabetes foot clinic with a swollen red foot (fig 1⇓). He had had type 1 diabetes for 25 years, complicated with retinopathy, peripheral neuropathy, and nephropathy, and was being worked up for dialysis following a failed pancreas-kidney transplant.
Piero, Baglioni, Manzar, Malik, Onyebuchi E, Okosieme   +2 more
openaire   +2 more sources

The Role of Bone Scintigraphy with SPECT/CT in the Characterization and Early Diagnosis of Stage 0 Charcot Neuroarthropathy

Journal of Clinical Medicine, 2020
We describe the use of Single Photon Emission Computed Tomography/Computed Tomography (SPECT/CT) in the investigation and diagnosis of Charcot neuroarthropathy (CN) in patients with a hot swollen foot but normal radiographs and clinical suspicion of CN ...
R. Ahluwalia, A. Bilal, N. Petrova, Krishna Boddhu, C. Manu, Prashanth R. J. Vas, M. Bates, B. Corcoran, I. Reichert, N. Mulholland, V. Kavarthapu, G. Vivian, M. Edmonds   +12 more
semanticscholar   +1 more source