Results 51 to 60 of about 1,742,640 (300)

Glycobiology of neuromuscular disorders [PDF]

Glycobiology, 2003
There has been a recent explosion in the identification of neuromuscular diseases caused by mutations in genes that affect carbohydrate metabolism or protein glycosylation. A number of these findings relate to defects in the glycosylation of alpha dystroglycan.
Paul T, Martin, Hudson H, Freeze
openaire   +2 more sources

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro

Disease Models & Mechanisms, 2015
McArdle disease, also termed ‘glycogen storage disease type V’, is a disorder of skeletal muscle carbohydrate metabolism caused by inherited deficiency of the muscle-specific isoform of glycogen phosphorylase (GP-MM).
Noemí de Luna, Astrid Brull, Josep Maria Guiu, Alejandro Lucia, Miguel Angel Martin, Joaquin Arenas, Ramon Martí, Antoni L. Andreu, Tomàs Pinós   +8 more
doaj   +1 more source

Central core disease (CCD): Improving the screening for mutations in RYR1 gene

, 2013
Univ São Paulo, Biosci Inst, Human Genome Res Ctr, Lab Muscle Prot & Comparat Histopathol, São Paulo, BrazilFed Univ São Paulo Unifesp, Dept Anestesiol, Div Malignant Hyperthermia, São Paulo, BrazilUniv Fed Minas Gerais, Dept Pediat, Pediat Neurol Serv ...
Yamamoto, L. U., Pavanello, R. C., Cuperman, T., Silva, H. C. [UNIFESP], Vainzof, M., Oliveira, A. S. [UNIFESP], Alcantara, S., Gurgel-Gianetti, J., Zatzl, M., Lourenco, N. C. V.   +9 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Hereditary neuropathy with liability to pressure palsies: a single-center experience in southern Brazil

Neurology International, 2016
The spectrum of clinical and electrophysiological features in hereditary neuropathy with liability to pressure palsies (HNPP) is broad. We analyze a series of Brazilian patients with HNPP. Correlations between clinical manifestations, laboratory features,
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Cristiane Cavalet, Raquel C. Arndt, Lineu Cesar Werneck, Rosana Herminia Scola   +5 more
doaj   +1 more source

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

Neuromuscular Disorders [PDF]

, 2012
Neuromuscular Disorders is an interesting compendium of diverse and fairly inclusive topics in disorders of nerve and muscle, with a spectrum of generally well written and pertinent chapters referencing specific categories of neuromuscular diseases.

core   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

Frontiers in Molecular Neuroscience, 2020
Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (= merosin) and result in either partial or complete laminin-211 deficiency.
Anna Sarkozy, A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni, Francesco Muntoni   +5 more
doaj   +1 more source