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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. e45, doi. 10.1093/brain/awae099
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- Publication type:
- Article
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 767, doi. 10.3233/JND-240020
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- Article
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 625, doi. 10.3233/JND-230230
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- Article
Proteomic studies in VWA1‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.
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- Journal of Cellular & Molecular Medicine, 2024, v. 28, n. 8, p. 1, doi. 10.1111/jcmm.18122
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- Article
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.
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- Journal of Neurology, 2024, v. 271, n. 3, p. 1331, doi. 10.1007/s00415-023-12070-w
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- Article
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 485, doi. 10.3233/JND-230181
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- Article
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy.
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- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-024-02709-x
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- Article
Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
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- Brain Pathology, 2024, v. 34, n. 1, p. 1, doi. 10.1111/bpa.13200
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- Article
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 143, doi. 10.3233/JND-230136
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- Article
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
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- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4233, doi. 10.1093/brain/awad153
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- Publication type:
- Article
Analysis of Free Circulating Messenger Ribonucleic Acids in Serum Samples from Late-Onset Spinal Muscular Atrophy Patients Using nCounter NanoString Technology.
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- Cells (2073-4409), 2023, v. 12, n. 19, p. 2374, doi. 10.3390/cells12192374
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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
Wege zur Therapie neuromuskulärer Erkrankungen in der Neuropädiatrie und Neurologie.
- Published in:
- 2023
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- Publication type:
- Editorial
Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1.
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- Journal of Neurology, 2023, v. 270, n. 6, p. 3138, doi. 10.1007/s00415-023-11633-1
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- Publication type:
- Article
Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy.
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- Acta Neuropathologica, 2023, v. 145, n. 5, p. 611, doi. 10.1007/s00401-023-02554-4
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- Publication type:
- Article
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
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- Molecular Neurobiology, 2023, v. 60, n. 5, p. 2602, doi. 10.1007/s12035-023-03219-9
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- Article
Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6808, doi. 10.3390/ijms24076808
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- Article
Patterns of cardiac involvement in different muscular dystrophies assessed by magnetic resonance imaging.
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- Acta Radiologica, 2023, v. 64, n. 2, p. 605, doi. 10.1177/02841851221077402
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- Publication type:
- Article
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 668, doi. 10.1093/brain/awac252
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- Article
Pädiatrische Neurointensivmedizin.
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- Der Nervenarzt, 2023, v. 94, n. 2, p. 75, doi. 10.1007/s00115-022-01424-w
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- Publication type:
- Article
„Essener Transitionsmodell" bei neuromuskulären Erkrankungen.
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- Der Nervenarzt, 2023, v. 94, n. 2, p. 129, doi. 10.1007/s00115-022-01274-6
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- Publication type:
- Article
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.
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- Brain Communications, 2023, v. 5, n. 1, p. 1, doi. 10.1093/braincomms/fcad017
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- Article
Risk and course of COVID-19 in immunosuppressed patients with myasthenia gravis.
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- Journal of Neurology, 2023, v. 270, n. 1, p. 1, doi. 10.1007/s00415-022-11389-0
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- Publication type:
- Article
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 29, doi. 10.3233/JND-221600
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- Article
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 55, doi. 10.3233/JND-221577
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- Publication type:
- Article
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening.
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- Children, 2022, v. 9, n. 12, p. 1829, doi. 10.3390/children9121829
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- Article
Endoplasmic reticulum‐stress and unfolded protein response‐activation in immune‐mediated necrotizing myopathy.
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- Brain Pathology, 2022, v. 32, n. 6, p. 1, doi. 10.1111/bpa.13084
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- Publication type:
- Article
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
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- 2022
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- Publication type:
- journal article
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
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- 2022
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- Publication type:
- journal article
Essen transition model for neuromuscular diseases.
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- Neurological Research & Practice, 2022, v. 4, n. 1, p. 1, doi. 10.1186/s42466-022-00206-8
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- Publication type:
- Article
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 597, doi. 10.3233/JND-221510
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- Publication type:
- Article
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen‐treated patients with spinal muscular atrophy.
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- European Journal of Neurology, 2022, v. 29, n. 7, p. 2084, doi. 10.1111/ene.15331
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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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- Article
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 389, doi. 10.3233/JND-220789
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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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- Article
Neuropädiatrie trifft Neurologie: Gemeinsamkeiten – Unterschiede?
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- 2022
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- Publication type:
- Editorial
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
Neugeborenenscreeningprogramm für die spinale Muskelatrophie.
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- Der Nervenarzt, 2022, v. 93, n. 2, p. 135, doi. 10.1007/s00115-021-01204-y
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- Publication type:
- Article
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
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- 2022
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- Publication type:
- journal article
A de novoCSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.
- Published in:
- 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
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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- Publication type:
- Article
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 12, p. 3481, doi. 10.3390/cells10123481
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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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- Publication type:
- Article
<sup>1</sup>H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
- Published in:
- 2021
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- Publication type:
- journal article
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 856, doi. 10.1111/nan.12730
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- Publication type:
- Article
Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy.
- Published in:
- Children, 2021, v. 8, n. 9, p. 1, doi. 10.3390/children8090721
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- Publication type:
- Article
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 7835, doi. 10.3390/ijms22157835
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- Publication type:
- Article
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 972, doi. 10.1002/jimd.12341
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- Publication type:
- Article
Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 603, doi. 10.3233/JND-200558
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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.
- Published in:
- 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