Results 151 to 160 of about 15,859 (215)

Plasma Neurofilament Light Chain and Phosphorylated Tau Are Elevated in Myotonic Dystrophy Type 1. [PDF]

J Clin Med
Takahashi MP, Tatebe H, Takada H, Nakayama T, Kobayashi M, Yoshida K, Kuru S, Kira N, Kubota T, Mizutani Y, Watanabe H, Takado Y, Tokuda T.   +12 more
europepmc   +1 more source

Brazilian version of the ACTIVLIM: translation, cultural adaptation, and validation for neuromuscular disorders. [PDF]

Arq Neuropsiquiatr
Santos ACC, Almeida DM, Pereira NB, Silva AMS, Zanoteli E, Voos MC.   +5 more
europepmc   +1 more source

Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis. [PDF]

PLoS One
Asayama R, Tanaka-Nishikubo K, Iwanami J, Fukazawa T, Kanagawa M, Hato N.   +5 more
europepmc   +1 more source

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. [PDF]

Eur J Neurol
He QF, Lin YH, Zheng ZL, Zeng MH, Lin X, Liu XY, Kang-Yang, Zhang QI, Lin MT, Wang N, Wang ZQ, Lin F.   +11 more
europepmc   +1 more source

Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort. [PDF]

Genes (Basel)
Cerecedo-Zapata CM, Guerra-Grajeda A, Márquez-Quiróz LC, Arciga-Portela P, Escobar-Cedillo RE, Jiménez-Gutiérrez GE, Pérez-Méndez ÓA, Velasco-Flores JS, Barredo-Prieto BA, Leyva-García N, Cisneros B, Murillo-Melo NM, Magaña JJ.   +12 more
europepmc   +1 more source

Video-Based Biomechanical Analysis Captures Disease-Specific Movement Signatures of Different Neuromuscular Diseases. [PDF]

NEJM AI
Ruth PS, Uhlrich SD, de Monts C, Falisse A, Muccini J, Covitz S, Vogt-Domke S, Day J, Duong T, Delp SL.   +9 more
europepmc   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy-A Pilot ¹H-MRS Study. [PDF]

Ann Clin Transl Neurol
Gussew A, Kargaran M, Rothe M, Deistung A, Stoevesandt D, Wohlgemuth WA, Strube D, Kendzierski T, Kölsch AK, Heuschen MGA, Otto M, Mensch A.   +11 more
europepmc   +1 more source

Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis. [PDF]

Biomedicines
Teresi L, Trimarchi G, Licordari R, Restelli D, Taverna G, Liotta P, Micari A, Smecca I, Dendramis G, Turturiello D, Latini AC, Falasconi G, de Gregorio C, Crea P, Dattilo G, Berruezo A, Micari A, Di Bella G.   +17 more
europepmc   +1 more source

Intron 1 of the <i>C9orf72</i> gene: The RNA that RAN. [PDF]

Proc Natl Acad Sci U S A
Hagerman PJ.
europepmc   +1 more source

Identification of enzymatically modified isoquercitrin as a therapeutic lead for myotonic dystrophy type 1. [PDF]

NAR Mol Med
Mishra SK, Hicks SM, Frias JA, Zhang J, Handley MT, Vangaveti S, Reid TS, Pandey A, McMichael O, Crumbaugh C, Provenzano M, Hale MA, Johnson NE, Nakamori M, Cleary JD, Reddy K, Berglund JA.   +16 more
europepmc   +1 more source