Found: 37
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Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.
- Published in:
- Skeletal Muscle, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13395-024-00348-0
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- Publication type:
- Article
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
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
- Published in:
- JAMA Pediatrics, 2024, v. 178, n. 6, p. 540, doi. 10.1001/jamapediatrics.2024.0492
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- Article
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 625, doi. 10.3233/JND-230230
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- Publication type:
- 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
Complement and MHC patterns can provide the diagnostic framework for inflammatory neuromuscular diseases.
- Published in:
- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-023-02669-8
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- Publication type:
- Article
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy.
- Published in:
- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-024-02709-x
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- Publication type:
- Article
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 143, doi. 10.3233/JND-230136
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- Publication type:
- Article
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4200, doi. 10.1093/brain/awad152
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- Publication type:
- Article
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4233, doi. 10.1093/brain/awad153
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- Publication type:
- Article
Update zur medikamentösen Behandlung der spinalen Muskelatrophie.
- Published in:
- Der Nervenarzt, 2023, v. 94, n. 6, p. 488, doi. 10.1007/s00115-023-01462-y
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- Publication type:
- Article
„Essener Transitionsmodell" bei neuromuskulären Erkrankungen.
- Published in:
- Der Nervenarzt, 2023, v. 94, n. 2, p. 129, doi. 10.1007/s00115-022-01274-6
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- Publication type:
- Article
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany.
- Published in:
- 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.
- Published in:
- Children, 2022, v. 9, n. 12, p. 1829, doi. 10.3390/children9121829
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- Publication type:
- Article
Essen transition model for neuromuscular diseases.
- Published in:
- 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?
- Published in:
- 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.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 7, p. 2084, doi. 10.1111/ene.15331
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- Publication type:
- Article
New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 893, doi. 10.3390/genes13050893
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- Publication type:
- Article
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 389, doi. 10.3233/JND-220789
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- Publication type:
- Article
Neugeborenenscreeningprogramm für die spinale Muskelatrophie.
- Published in:
- Der Nervenarzt, 2022, v. 93, n. 2, p. 135, doi. 10.1007/s00115-021-01204-y
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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.
- 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.
- Published in:
- 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
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 972, doi. 10.1002/jimd.12341
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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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- Article
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
- Published in:
- 2021
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- Publication type:
- journal article
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study.
- Published in:
- Frontiers in Human Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnhum.2020.560860
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- Article
Further evidence for POMK as candidate gene for WWS with meningoencephalocele.
- Published in:
- 2020
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- Publication type:
- journal article
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1600, doi. 10.1002/humu.24062
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- Publication type:
- Article
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain.
- Published in:
- 2020
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- Publication type:
- journal article
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
- Published in:
- 2019
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- Publication type:
- journal article
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00470
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- Publication type:
- Article
Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.
- Published in:
- 2017
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- Publication type:
- Correction Notice
Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173144
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- Publication type:
- Article