Results 91 to 100 of about 9,500,261 (386)

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

Clinical analysis of 155 patients with Duchenne muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2015
Objective To investigate the clinical manifestations and laboratory examinations of Duchenne muscular dystrophy (DMD) patients and evaluate the principle of intermittent intravenous combined with oral glucocorticoid therapy.
Qi BING, Jing HU, Zhe ZHAO, Hong-rui SHEN, Na LI   +4 more
doaj  

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Annals of Clinical and Translational Neurology, 2016
Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian
M. Kambouris, J. Thevenon, A. Soldatos, Allison J Cox, J. Stephen, T. Ben-Omran, Y. Al-Sarraj, Hala Boulos, W. Bone, J. Mullikin, A. Masurel‐Paulet, J. St‐Onge, Yannis Dufford, C. Chantegret, C. Thauvin-Robinet, Jamil R Al-Alami, L. Faivre, J. Rivière, W. Gahl, A. Bassuk, M. Malicdan, H. El-Shanti   +21 more
semanticscholar   +1 more source

Safety and feasibility of Lin- cells administration to ALS patients : a novel view on humoral factors and miRNA profiles [PDF]

, 2018
Therapeutic options for amyotrophic lateral sclerosis (ALS) are still limited. Great hopes, however, are placed in growth factors that show neuroprotective abilities (e.g., nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), and vascular
Baumert, Bartłomiej, Dulak, Józef, Gołąb-Janowska, Monika, Gródecka-Szwajkiewicz, Dorota, Kawa, Miłosz P., Kotowski, Maciej, Litwińska, Zofia, Machaliński, Bogusław, Nowacki, Przemysław, Peregud-Pogorzelski, Jarosław, Pius-Sadowska, Ewa, Sobuś, Anna, Stępniewski, Jacek   +12 more
core   +2 more sources

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, on behalf of the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
wiley   +1 more source

A novel DNM2 variant associated with centronuclear myopathy: a case report

Frontiers in Genetics
DNM2 encodes the dynamin-2 protein, a GTPase involved in clathrin-mediated endocytosis and other membrane trafficking pathways. The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin ...
Martina Rimoldi, Daniele Velardo, Simona Zanotti, Michela Ripolone, Roberto Del Bo, Patrizia Ciscato, Laura Napoli, Stefania Corti, Stefania Corti, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi   +12 more
doaj   +1 more source

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source

The Case of a 25‐Year‐Old Woman With Isolated Head Tremor

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao, Zhihong Xu, Xingyu Zhuang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji   +5 more
wiley   +1 more source