Results 231 to 240 of about 20,218 (296)

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution. [PDF]

Cureus
Kumar N, Dange P, Samadder A, Kalita S, Kaushik JS.   +4 more
europepmc   +1 more source

Error Traps in Pediatric Neuromuscular Block

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Neuromuscular blocking agents are essential for safe pediatric anesthesia but remain a frequent source of preventable morbidity when misused, inadequately monitored, or incompletely reversed. Children, particularly neonates and infants, are especially vulnerable to residual neuromuscular block due to developmental pharmacological ...
Gabriel Soares de Sousa, Debra Faulk, Vinicius Caldeira Quintao, Niekoo Abbasian, Hans D. de Boer, Ricardo Vieira Carlos   +5 more
wiley   +1 more source

Beyond <i>SGCE</i>: expanding the clinical and molecular spectrum of <i>KCTD17</i>- and <i>KCNN2</i>-related myoclonus-dystonia. [PDF]

Front Neurol
Krygier M, Sitek EJ, Chylińska M, Ziętkiewicz S, Zawadzka M, Dulski J, Schinwelski M, Kostrzewa G, Wierzba J, Płoski R, Zech M, Mazurkiewicz-Bełdzińska M.   +11 more
europepmc   +1 more source

Treating Acute Toxo-Metabolic Encephalopathy With Continuous Renal Replacement Therapy: A Case Report of Ifosfamide Neurotoxicity. [PDF]

Cureus
Khan BSA, Din Bashir S.
europepmc   +1 more source

The "Hallett Sign" of Functional Jerky Movement Disorder. [PDF]

Mov Disord
Stone J, Lang AE, Jankovic J, Tinazzi M, Dworetzky BA, Carson A, Tijssen MAJ.   +6 more
europepmc   +1 more source

Brain Health in Former Professional Motorsport Drivers: Case Series in a Population Exposed to Sport-Related Concussions and Repetitive Head Impacts. [PDF]

Sports Med Open
Polet K, Aeschlimann Y, Deslauriers-Gauthier S, Hesse S, Morisot A, Pesce A, Chanalet S, Liberatore M, Faraggi M, Scarlot R, Louchart De La Chapelle S, Paulmier B.   +11 more
europepmc   +1 more source

Visible Tongue Fasciculations With Electromyographic Denervation in Autopsy‐Proven Progressive Supranuclear Palsy Mimicking Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
Hiroyasu Inoue, Yoshihiko Horimoto, Yo Tsuda, Yuta Madokoro, Shoji Kawashima, Akio Akagi, Yasushi Iwasaki, Noriyuki Matsukawa   +7 more
wiley   +1 more source