Results 121 to 130 of about 9,547 (174)

Comparative neuropsychiatric safety signals of tacrolimus versus cyclosporine in solid organ transplantation: ten-year FAERS pharmacovigilance study. [PDF]

Front Immunol
Almalki BA, Alamer KA.
europepmc   +1 more source

From bedside to bench: A multimodal approach uncovering the molecular basis of the <i>MYBPC1</i>-linked Myotrem myopathy. [PDF]

Proc Natl Acad Sci U S A
Iyer AS, Wright NT, Cook ME, Takagi Y, Johnson BA, Biancalana V, Massier M, Spodenkiewicz M, Poirsier C, Vallecillo B, Constant Boyer F, Pineau C, Hensley L, Sellers JR, Varney KM, Weber DJ, Kontrogianni-Konstantopoulos A.   +16 more
europepmc   +1 more source

Epilepsy Phenotypic Spectrum of NUS1-Related Disorder: A Case Series. [PDF]

Ann Child Neurol Soc
Ahmadi S, Fulton N, Morrissey M, Landre R, Tomko S, Urano F, Guerriero RM.   +6 more
europepmc   +1 more source

HUPA: A corpus of disordered and normophonic voices in Castilian Spanish. [PDF]

Data Brief
Puerta-Acevedo JC, Alcalá-Durand MF, Mendes-Laureano J, Arias-Londoño JD, Godino-Llorente JI.   +4 more
europepmc   +1 more source

A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies. [PDF]

Glob Med Genet
Pomarino D, Rostásy KM, Fregien B, Schönfeldt JO, Nazarkin A.   +4 more
europepmc   +1 more source

Basal Ganglia Intraparenchymal Cyst Revealed by a Movement Disorder. [PDF]

Cureus
Benyarou K, El Hasnaoui S, Yousfi S, Mebrouk Y.   +3 more
europepmc   +1 more source

Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study. [PDF]

Glob Med Genet
Pomarino D, Rostásy KM, Fregien B, Schönfeldt JO, Nazarkin A.   +4 more
europepmc   +1 more source

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Congenital tremor and myopathy secondary to novel MYBPC1 variant

Journal of the Neurological Sciences
Congenital myopathy with tremor (MYOTREM) is a recently described disorder characterized by mild myopathy and a postural and intention tremor present since early infancy. MYOTREM is associated with pathogenic variants in MYBPC1 which encodes slow myosin-binding protein C, a sarcomere protein with regulatory and structural roles.
Warman Chardon J, Sunita Venkateswaran, Lijia Huang   +2 more
exaly   +3 more sources