Found: 109
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Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
- Published in:
- Neurological Sciences, 2024, v. 45, n. 3, p. 1007, doi. 10.1007/s10072-023-07101-3
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- Publication type:
- Article
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 4, p. 1523, doi. 10.1007/s10072-020-04896-3
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- Publication type:
- Article
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
- Published in:
- 2018
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- Publication type:
- journal article
The TLR‐chaperone CNPY3 is a critical regulator of NLRP3‐inflammasome activation.
- Published in:
- European Journal of Immunology, 2022, v. 52, n. 6, p. 907, doi. 10.1002/eji.202149612
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- Publication type:
- Article
De novoAHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 389, doi. 10.1159/000538918
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- Publication type:
- Article
Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 6, p. 469, doi. 10.1159/000531069
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- Publication type:
- Article
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 201, doi. 10.1159/000528651
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- Publication type:
- Article
Novel HIVEP2 Variants in Patients with Intellectual Disability.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 4, p. 195, doi. 10.1159/000499060
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- Publication type:
- Article
Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings.
- Published in:
- Journal of Cutaneous Pathology, 2022, v. 49, n. 3, p. 293, doi. 10.1111/cup.14154
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- Publication type:
- Article
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0254-5
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- Publication type:
- Article
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
- Published in:
- 2015
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- Publication type:
- journal article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0119-3
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- Publication type:
- Article
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-24
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- Publication type:
- Article
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
- Published in:
- 2014
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- Publication type:
- journal article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- 2014
- By:
- 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
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
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
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4547, doi. 10.1093/brain/awad235
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- Publication type:
- Article
prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1093, doi. 10.1093/brain/awac155
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- Publication type:
- Article
Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes.
- Published in:
- 2022
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- Publication type:
- journal article
Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration.
- Published in:
- 2022
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- Publication type:
- journal article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
- Published in:
- 2021
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- Publication type:
- journal article
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
- Published in:
- 2018
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- Publication type:
- journal article
Treatable mitochondrial diseases: cofactor metabolism and beyond.
- Published in:
- 2017
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- Publication type:
- Letter
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
- Published in:
- 2016
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- Publication type:
- journal article
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
- Published in:
- 2015
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- Publication type:
- journal article
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
- Published in:
- Journal of Genetics, 2017, v. 96, n. 6, p. 1005, doi. 10.1007/s12041-017-0868-6
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- Publication type:
- Article
Novel Variants of SOX4 in Patients with Intellectual Disability.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3519, doi. 10.3390/ijms24043519
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- Publication type:
- Article
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2709, doi. 10.3390/ijms24032709
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- Publication type:
- Article
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3240, doi. 10.3390/ijms23063240
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- Publication type:
- Article
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2271, doi. 10.3390/ijms23042271
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- Publication type:
- Article
Clinical Characteristics of POC1B -Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5396, doi. 10.3390/ijms22105396
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- Publication type:
- Article
Clinical Phenotype of PDE6B -Associated Retinitis Pigmentosa.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2374, doi. 10.3390/ijms22052374
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- Publication type:
- Article
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
- Published in:
- Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2024, p. 1, doi. 10.1177/20552173241263491
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- Publication type:
- Article
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
- Published in:
- Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2024, v. 10, n. 3, p. 1, doi. 10.1177/20552173241263491
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- Publication type:
- Article
A further case of AFG2B‐related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2310
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- Publication type:
- Article
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2151
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- Publication type:
- Article
Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2120
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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
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1807
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- Publication type:
- Article
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
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- Publication type:
- Article
Novel homozygous LAMB1 in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2656, doi. 10.1002/ajmg.a.63349
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- Publication type:
- Article
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 214, doi. 10.1038/ng.2501
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- Publication type:
- Article
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
- Published in:
- Nature Genetics, 2010, v. 42, n. 12, p. 1131, doi. 10.1038/ng.706
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- Publication type:
- Article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
- Published in:
- 2018
- By:
- Publication type:
- journal article
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00330-z
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- Publication type:
- Article
Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 15, p. 4369, doi. 10.3390/jcm11154369
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- Publication type:
- Article