- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
Nemaline myopathy with severe congenital manifestation ; volume:81 ; number:S 01 ; year:2023 ; 01
Konferenz: SBN Conference 2022; 2022-11-09; Expo United Curitiba
Arquivos de neuro-psiquiatria ; 81, Heft S 01 (2023), 01
- Contributor
-
Marques, Izabela Cristina Macedo
Junior, Rui Carlos Silva
Silva, Giulia Vilela
Júnior, Nildo Vilacorte de Araújo
Valle, Daniel Almeida do
Nitsche, Anderson
Ortega, Adriana Banzzatto
Santos, Mara Lucia Schmitz Ferreira
- DOI
-
10.1055/s-0043-1774507
- URN
-
urn:nbn:de:101:1-2023110211151674268072
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:46 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Marques, Izabela Cristina Macedo
- Junior, Rui Carlos Silva
- Silva, Giulia Vilela
- Júnior, Nildo Vilacorte de Araújo
- Valle, Daniel Almeida do
- Nitsche, Anderson
- Ortega, Adriana Banzzatto
- Santos, Mara Lucia Schmitz Ferreira
Other Objects (12)
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features
Rare case of congenital myopathy associated with the FXR1 gene
Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy
Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy
Craniopharyngioma presenting with severe hyponatremia, hyponatremia-induced myopathy, and panhypopituitarism: a case report
Congenital rubella syndrome and its protean manifestation in Nigeria
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features
Rare case of congenital myopathy associated with the FXR1 gene
Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy
Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy
Craniopharyngioma presenting with severe hyponatremia, hyponatremia-induced myopathy, and panhypopituitarism: a case report
Congenital rubella syndrome and its protean manifestation in Nigeria
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features
Rare case of congenital myopathy associated with the FXR1 gene
Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy
Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy
Craniopharyngioma presenting with severe hyponatremia, hyponatremia-induced myopathy, and panhypopituitarism: a case report