Results 131 to 140 of about 2,421,984 (303)

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?

Annals of Clinical and Translational Neurology, 2021
Wai Yan Yau, Zhongbo Chen, Roisin Sullivan, Jana Vandrovcova, Henry Houlden   +4 more
doaj   +1 more source

Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A

Annals of Clinical and Translational Neurology
Objective With potential therapies for many forms of Charcot‐Marie‐Tooth disease (CMT), responsive outcome measures are urgently needed for clinical trials.
Carolynne M. Doherty, Jasper M. Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Menelaos Pipis, Nick Zafeiropoulos, Katherine J. Stephens, Tiffany Grider, Shawna M. E. Feely, Peggy Nopoulous, Mariola Skorupinska, Evelin Milev, Emma Nicolaisen, Magdalena Dudzeic, Amy McDowell, Nuran Dilek, Francesco Muntoni, Alexander M. Rossor, Sachit Shah, Matilde Laura, Tarek A. Yousry, Daniel Thedens, John Thornton, Michael E. Shy, Mary M. Reilly   +25 more
doaj   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

Acta Neuropathologica Communications, 2018
Sara Gibertini, Alessandra Ruggieri, Simona Saredi, Franco Salerno, Flavia Blasevich, Laura Napoli, Maurizio Moggio, Vincenzo Nigro, Lucia Morandi, Lorenzo Maggi, Marina Mora   +10 more
doaj   +1 more source

Rimegepant in airplane headache treatment: a case report

Journal of Medical Case Reports
Background Airplane headache is a rare condition first identified in 2004 and subsequently included in the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society in Cephalalgia 33:629 ...
Massimo Autunno, Marcella De Luca, Ludovica Ferraù, Carmelo Rodolico   +3 more
doaj   +1 more source

Compliance to Care Guidelines for Duchenne Muscular Dystrophy

, 2015
BACKGROUND: International care guidelines for Duchenne muscular dystrophy (DMD) were published in 2010, but compliance in clinical practice is unknown.
Schmitt, C, Guglieri, M, Straub, V, Bushby, K, Lindgren, P,, Bell, CF, Landfeldt, E,, Lochmüller, H   +7 more
core   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

Comparison of HRQoL between IIM and other neuromuscular diseases using the INQOL.

, 2016
Comparison of HRQoL between IIM and other neuromuscular diseases using the INQOL.
Malin Regardt (3141210), Sophie Wojcik (3141207), Valérie Leclair (3141204), Marie Hudson (289434)   +3 more
core   +1 more source