Found: 21
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Genomik und Proteomik in der Erforschung neuromuskulärer Erkrankungen.
- Published in:
- Der Nervenarzt, 2022, v. 93, n. 2, p. 114, doi. 10.1007/s00115-021-01201-1
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- Publication type:
- Article
Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy.
- Published in:
- 2021
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- Publication type:
- journal article
Proteomic studies in VWA1‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.
- Published in:
- Journal of Cellular & Molecular Medicine, 2024, v. 28, n. 8, p. 1, doi. 10.1111/jcmm.18122
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- Article
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease.
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- Human Mutation, 2022, v. 43, n. 4, p. 477, doi. 10.1002/humu.24338
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- Publication type:
- Article
Amyotrophe Lateralsklerose – Motoneuronerkrankung mit großem klinischem und genetischem Spektrum.
- Published in:
- Der Nervenarzt, 2023, v. 94, n. 6, p. 494, doi. 10.1007/s00115-023-01479-3
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- Publication type:
- Article
Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1278047
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- Article
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
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- Cells (2073-4409), 2021, v. 10, n. 12, p. 3481, doi. 10.3390/cells10123481
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- Article
High Prevalence of Alternative Diagnoses in Children and Adolescents with Suspected Long COVID—A Single Center Cohort Study.
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- Viruses (1999-4915), 2023, v. 15, n. 2, p. 579, doi. 10.3390/v15020579
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- Publication type:
- Article
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1767
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- Article
New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
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- Genes, 2022, v. 13, n. 5, p. 893, doi. 10.3390/genes13050893
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- Publication type:
- Article
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
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- Journal of Pathology, 2022, v. 256, n. 1, p. 93, doi. 10.1002/path.5812
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- Article
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 485, doi. 10.3233/JND-230181
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- Publication type:
- Article
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. e45, doi. 10.1093/brain/awae099
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- Publication type:
- Article
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
- Published in:
- 2020
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- Publication type:
- journal article
Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 6, p. 3138, doi. 10.1007/s00415-023-11633-1
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- Publication type:
- Article
A de novoCSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 283, doi. 10.1002/ajmg.a.62494
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- Publication type:
- Article
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1216, doi. 10.1002/ajmg.a.62070
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- Publication type:
- Article
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie
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- Journal of Clinical Immunology, 2020, v. 40, n. 5, p. 708, doi. 10.1007/s10875-020-00782-x
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- Publication type:
- Article
Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
- Published in:
- 2023
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- Publication type:
- Correction Notice
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
- Published in:
- Molecular Neurobiology, 2023, v. 60, n. 5, p. 2602, doi. 10.1007/s12035-023-03219-9
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- Publication type:
- Article
Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6808, doi. 10.3390/ijms24076808
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- Publication type:
- Article