Results 11 to 20 of about 218,393 (308)

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy [PDF]

Orphanet Journal of Rare Diseases
Background Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability.
Maria Grazia Cattinari, Mencía de Lemus, Eduardo Tizzano   +2 more
doaj   +2 more sources

Research progress of muscular diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
As the development of neuroscience technology and further realization of muscular diseases in Chinese doctors, there are a lot of clinical researches of muscular diseases in China during the period of Twelfth Five-Year Plan for National Economic and ...
Cheng ZHANG, Liang WANG
doaj   +1 more source

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Italian Journal of Pediatrics, 2020
Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 ...
Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale Striano   +17 more
doaj   +1 more source

Ferroptosis in Friedreich’s Ataxia: A Metal-Induced Neurodegenerative Disease

Biomolecules, 2020
Ferroptosis is an iron-dependent form of regulated cell death, arising from the accumulation of lipid-based reactive oxygen species when glutathione-dependent repair systems are compromised.
Piergiorgio La Rosa, Sara Petrillo, Maria Teresa Fiorenza, Enrico Silvio Bertini, Fiorella Piemonte   +4 more
doaj   +1 more source

Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review

Epilepsia Open, 2023
Objective NPRL3‐related epilepsy (NRE) is an emerging condition set within the wide GATOR‐1 spectrum with a particularly heterogeneous and elusive phenotypic expression.
Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso, Mariasavina Severino, Stefano Gustincich, Valeria Capra, Marco Di Duca, Federico Zara, Marcello Scala, Pasquale Striano   +11 more
doaj   +1 more source

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +1 more source

COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy. [PDF]

, 2021
INTRODUCTION Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich congenital muscular dystrophy.
Jan Brands, Thomas Bilzer, Frank Steffen, Brands, Jan, Spennes, Jochen, Bilzer, Thomas, Leeb, Tosso, Tosso Leeb, Steffen, Frank, Jochen Spennes   +9 more
core   +1 more source

Exertional heat stroke-related rhabdomyolysis recurring twice in a 12-year-old boy athlete [PDF]

Pediatric Emergency Medicine Journal, 2022
Exertional heat stroke (EHS) is a life-threatening entity characterized by elevated core temperature with potential for multiorgan dysfunction. EHS-related rhabdomyolysis usually occurs in the early phase.
Soo Jin Kwon, Jong Ho Cha, Yong Joo Kim, Seung Yang, Jin-Hwa Moon, Jae Yoon Na   +5 more
doaj   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core   +1 more source

Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages [PDF]

, 2007
Mutations in laminin-alpha2 cause a severe congenital muscular dystrophy, called MDC1A. The two main receptors that interact with laminin-alpha2 are dystroglycan and alpha7beta1 integrin.
Ruegg, M. A., Patrizia Barzaghi, Lochmuller, H., Sarina Meinen, Markus A. Ruegg, Lin, S., Hanns Lochmüller, Shuo Lin, Barzaghi, P., Meinen, S.   +9 more
core   +1 more source