Found: 34
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Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Clinical phenotypes of MAGEL2 mutations and deletions.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 40, doi. 10.1186/1750-1172-9-40
- By:
- Publication type:
- Article
Clinical phenotypes of MAGEL2 mutations and deletions.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
The prevalence of headache in German pupils of different ages and school types.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Influence of chronic diseases on the olfactory function in children.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Sex and age-related patterns in pediatric primary headaches: observations from an outpatient headache clinic.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1441129
- By:
- Publication type:
- Article
Feedback-Based Learning of Timing in Attention-Deficit/Hyperactivity Disorder and Neurofibromatosis Type 1.
- Published in:
- Journal of the International Neuropsychological Society, 2022, v. 28, n. 1, p. 12, doi. 10.1017/S1355617721000072
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- Publication type:
- Article
Genomic profiling in neuronal dyneinopathies and updated classifications.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2607, doi. 10.1002/ajmg.a.62243
- By:
- Publication type:
- Article
Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2862, doi. 10.1002/ajmg.a.40634
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- Publication type:
- Article
Geschlechtsspezifische Ergebnisse des Dresdner Kinder- und Jugendkopfschmerzprogrammes DreKiP.
- Published in:
- Der Schmerz, 2024, v. 38, n. 2, p. 107, doi. 10.1007/s00482-023-00756-z
- By:
- Publication type:
- Article
Response inhibition in Attention deficit disorder and neurofibromatosis type 1 - clinically similar, neurophysiologically different.
- Published in:
- Scientific Reports, 2017, p. 43929, doi. 10.1038/srep43929
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- Publication type:
- Article
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
- Published in:
- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0170-1
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- Publication type:
- Article
Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119030
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- Publication type:
- Article
Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13023-019-1066-9
- By:
- Publication type:
- Article
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 112, doi. 10.1038/ejhg.2012.97
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- Publication type:
- Article
Neuropädiatrische Differenzialdiagnostik der Mikrozephalie im Kindesalter.
- Published in:
- Medizinische Genetik, 2016, v. 28, n. 1, p. 1, doi. 10.1007/s11825-016-0081-7
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- Publication type:
- Article
Functional improvement in children and adolescents with primary headache after an interdisciplinary multimodal therapy program: the DreKiP study.
- Published in:
- Journal of Headache & Pain, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s10194-022-01481-1
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- Publication type:
- Article
Correction: Diagnostic value of partial exome sequencing in developmental disorders.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 508, doi. 10.1093/brain/aws344
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- Publication type:
- Article
Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2013, doi. 10.1002/acn3.51449
- By:
- Publication type:
- Article
Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03362-z
- By:
- Publication type:
- Article
Deep Brain Stimulation in a Patient with TSPOAP1‐Biallelic Variant of Autosomal‐Recessive Dystonia.
- Published in:
- Movement Disorders, 2023, v. 38, n. 11, p. 2139, doi. 10.1002/mds.29618
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- Publication type:
- Article
Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101: Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V
- Published in:
- Der Nervenarzt, 2020, v. 91, n. 6, p. 518, doi. 10.1007/s00115-020-00919-8
- By:
- Publication type:
- Article
Selenoprotein N Muscular Dystrophy: Differential Diagnosis for Early-Onset Limited Mobility of the Spine.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 4, p. 316, doi. 10.2310/7010.2006.00080
- By:
- Publication type:
- Article
Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1474, doi. 10.1002/humu.22130
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- Publication type:
- Article
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. E831, doi. 10.1002/humu.21063
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- Publication type:
- Article
Olfactory function after mild traumatic brain injury in children—a longitudinal case control study.
- Published in:
- Cerebral Cortex, 2024, v. 34, n. 4, p. 1, doi. 10.1093/cercor/bhae162
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- Publication type:
- Article
Gene-Targeted Therapies and Palliative Care in Children with Spinal Muscular Atrophy Type I: No Intrinsic Contradiction.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Diagnostic value of partial exome sequencing in developmental disorders.
- Published in:
- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201041
- By:
- Publication type:
- Article
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7‐related osteopetrosis.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 8, p. 1621, doi. 10.1002/jbmr.4322
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- Publication type:
- Article
Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57185-w
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- Publication type:
- Article
Acquired Olfactory Dysfunction in Children and Adolescents: A Systematic Review of the Literature.
- Published in:
- Chemical Senses, 2018, v. 43, n. 8, p. 571, doi. 10.1093/chemse/bjy046
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- Publication type:
- Article