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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1436, doi. 10.1093/brain/awad380
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- Publication type:
- Article
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 20, p. 2981, doi. 10.1093/hmg/ddad124
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- Publication type:
- Article
Only one beer can be mortal: a case report of two sisters with cardiac arrest due to a homozygous mutation in PPA2 gene.
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- European Journal of Pediatrics, 2023, v. 182, n. 8, p. 3785, doi. 10.1007/s00431-023-05034-9
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- Publication type:
- Article
Familial acute aortic dissection associated with a novel ACTA2 germline variant.
- Published in:
- 2023
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- Publication type:
- Case Study
Preconception carrier screening as an alternative reproductive option prior to newborn screening for severe recessive disorders.
- Published in:
- Medizinische Genetik, 2022, v. 34, n. 2, p. 157, doi. 10.1515/medgen-2022-2123
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- Publication type:
- Article
Correction: Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3851, doi. 10.1002/ajmg.a.62433
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- Publication type:
- Article
Do non-invasive prenatal tests promote discrimination against people with Down syndrome? What should be done?
- Published in:
- Journal of Perinatal Medicine, 2021, v. 49, n. 8, p. 965, doi. 10.1515/jpm-2021-0204
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- Publication type:
- Article
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents--Consensus-Based Practice Guidelines.
- Published in:
- Children, 2021, v. 8, n. 8, p. 1, doi. 10.3390/children8080687
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- Publication type:
- Article
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
- Published in:
- 2021
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- Publication type:
- journal article
Reply: CFTR analysis should not be offered to all patients with unexplained azoospermia in the presence of normal gonadotropin levels.
- Published in:
- 2021
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- Publication type:
- letter
The genetic counseling profession in Austria: Stakeholders' perspectives.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 3, p. 861, doi. 10.1002/jgc4.1389
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- Publication type:
- Article
Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020.
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- Medizinische Genetik, 2020, p. 207, doi. 10.1515/medgen-2020-2038
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- Publication type:
- Article
Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues.
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- Medizinische Genetik, 2020, p. 221, doi. 10.1515/medgen-2020-2031
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- Publication type:
- Article
Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020.
- Published in:
- Medizinische Genetik, 2020, p. 207, doi. 10.1515/medgen-2020-2038
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- Publication type:
- Article
Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues.
- Published in:
- Medizinische Genetik, 2020, p. 221, doi. 10.1515/medgen-2020-2031
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- Publication type:
- Article
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 730, doi. 10.1002/ajmg.a.61478
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- Publication type:
- Article
Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction.
- Published in:
- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0229718
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- Publication type:
- Article
Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration.
- Published in:
- EMBO Journal, 2018, v. 37, n. 23, p. N.PAG, doi. 10.15252/embj.2018100540
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- Publication type:
- Article
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
- Published in:
- 2017
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- Publication type:
- letter
Spinale Muskelatrophien.
- Published in:
- Medizinische Genetik, 2017, v. 29, n. 1, p. 21, doi. 10.1007/s11825-017-0129-3
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- Publication type:
- Article
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
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- 2016
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- Publication type:
- journal article
Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.
- Published in:
- 2016
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- Publication type:
- journal article
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
- Published in:
- 2016
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- Publication type:
- case study
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.90
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- Publication type:
- Article
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie-Tooth disease type 2E.
- Published in:
- Clinical Neuropathology, 2014, v. 33, n. 5, p. 335, doi. 10.5414/NP300742
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- Publication type:
- Article
Pontocerebellar hypoplasia.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 2, p. 173, doi. 10.1002/ajmg.c.31403
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- Publication type:
- Article
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
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- Journal of Anatomy, 2014, v. 224, n. 1, p. 15, doi. 10.1111/joa.12083
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- Publication type:
- Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3634, doi. 10.1093/brain/awt283
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- Publication type:
- Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
- Published in:
- 2013
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- Publication type:
- Journal Article
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-41
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- Publication type:
- Article
Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.
- Published in:
- Neuropathology, 2013, v. 33, n. 1, p. 59, doi. 10.1111/j.1440-1789.2012.01317.x
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- Publication type:
- Article
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
- Published in:
- 2013
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- Publication type:
- journal article
Clinical utility gene card for: proximal spinal muscular atrophy.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 1, doi. 10.1038/ejhg.2012.62
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- Publication type:
- Article
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 704, doi. 10.1038/ng.2254
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- Publication type:
- Article
Genetic tests in sports medicine - many studies, little impact.
- Published in:
- Genomics, Society & Policy, 2012, v. 8, n. 1, p. 13, doi. 10.1186/1746-5354-8-1-13
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- Publication type:
- Article
A phenotype map for 14q32.3 terminal deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 695, doi. 10.1002/ajmg.a.35256
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- Publication type:
- Article
Recurrence risks of hypertensive diseases in pregnancy after HELLP syndrome.
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- Journal of Perinatal Medicine, 2011, v. 39, n. 6, p. 673, doi. 10.1515/JPM.2011.081
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- Publication type:
- Article
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family.
- Published in:
- Movement Disorders, 2011, v. 26, n. 2, p. 361, doi. 10.1002/mds.23437
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- Publication type:
- Article
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 7, p. 1108, doi. 10.1007/s00415-010-5471-1
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- Publication type:
- Article
Digital necroses and vascular thrombosis in severe spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2010, v. 42, n. 1, p. 144, doi. 10.1002/mus.21654
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- Publication type:
- Article
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1055, doi. 10.1038/ejhg.2008.60
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- Publication type:
- Article
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
- Published in:
- Human Mutation, 2008, v. 29, n. 5, p. 709, doi. 10.1002/humu.20712
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- Publication type:
- Article
Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1).
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 2, p. 199, doi. 10.1177/0883073807310989
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- Publication type:
- Article
Genes and the preeclampsia syndrome.
- Published in:
- Journal of Perinatal Medicine, 2008, v. 36, n. 1, p. 38, doi. 10.1515/JPM.2008.004
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- Publication type:
- Article
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2989, doi. 10.1093/hmg/ddm269
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- Publication type:
- Article
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
- Published in:
- Neurogenetics, 2007, v. 8, n. 2, p. 137, doi. 10.1007/s10048-006-0070-0
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- Publication type:
- Article
Myofiber Degeneration in Autosomal Dominant Emery–Dreifuss Muscular Dystrophy (AD-EDMD) (LGMD1B).
- Published in:
- Brain Pathology, 2006, v. 16, n. 4, p. 266, doi. 10.1111/j.1750-3639.2006.00028.x
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- Publication type:
- Article
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1312, doi. 10.1038/ng1678
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- Publication type:
- Article
Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 309, doi. 10.1038/sj.ejhg.5201268
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- Publication type:
- Article