Results 141 to 150 of about 1,662 (201)

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders. [PDF]

Front Neurosci
Manjunath U, R V, Kulkarni SS, Reddy HN, Anil A, Mishra RK, Iyer GR.   +6 more
europepmc   +1 more source

Genetic and Structural Variations in Czech Patients With Congenital Myopathies. [PDF]

Clin Genet
Zídková J, Lauerová B, Mensová L, Kramářová T, Kopčilová J, Réblová K, Soukup Vodičková M, Hujňáková M, Haberlová J, Rohlenová M, Mazanec R, Šoukalová J, Gaillyová R, Vyhnálková E, Balaščaková M, Danhofer P, Juříková L, Grečmalová D, Gřegořová A, Plevová P, Langová M, Honzík T, Magner M, Klincová M, Solařová P, Šenkeříková M, Fajkusová L.   +26 more
europepmc   +1 more source

Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence. [PDF]

Mol Syndromol
Wang M, Hong J, Han S, Jin P, Xu C, Qian Y, Dong M.   +6 more
europepmc   +1 more source

A homozygous single-nucleotide variant in <i>TNNT1</i> causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report. [PDF]

J Neuromuscul Dis
Laarne M, Oghabian A, Laitila J, Isohanni P, Tynninen O, Zhao F, Rostedt F, Sarparanta J, Sagath L, Lawlor MW, Wallgren-Pettersson C, Lehtokari VL, Pelin K.   +12 more
europepmc   +1 more source

Open bite malocclusion and orofacial dysfunction in patients with rare diseases. [PDF]

Eur J Orthod
Havner C, Mogren Å, Sjögreen L, Westerlund A.   +3 more
europepmc   +1 more source

Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report. [PDF]

Cureus
Chalipat S, Talewad S, Gupta A, Bahal M, Mane SV.   +4 more
europepmc   +1 more source

Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods? [PDF]

BMJ Neurol Open
Sadeh M, Fellig Y, Dabby R.
europepmc   +1 more source

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study. [PDF]

J Neuromuscul Dis
Lehtokari VL, Similä M, Tammepuu M, Isohanni P, Auranen M, Hiekkala S, Wallgren-Pettersson C, Strang-Karlsson S.   +7 more
europepmc   +1 more source

Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives. [PDF]

Int J Mol Sci
Campuzano-Donoso M, Reytor-González C, Toral-Noristz M, González Y, Simancas-Racines D.   +4 more
europepmc   +1 more source