19 results on '"Arteche-López, Ana"'
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2. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
3. Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
4. Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes
5. New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in theRFC1gene
6. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families
7. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review
8. A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness
9. Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling
10. Adult‐onset nemaline myopathy due to a novel homozygous variant in theTNNT1gene
11. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
12. Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene
13. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
14. Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia
15. A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
16. Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
17. Prioritization of exome variants through an automatic system using HPO terms
18. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection
19. SOD1 mutations in adult‐onset distal spinal muscular atrophy
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