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Sensory Tricks in Pantothenate Kinase‐Associated Neurodegeneration: Video‐Analysis of 43 Patients.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 8, p. 704, doi. 10.1002/mdc3.12842
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- Publication type:
- Article
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria Espinós et al.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 6, p. 554, doi. 10.1111/j.1399-0004.2010.01431.x
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- Publication type:
- Article
Complexity of the Hereditary Motor and Sensory Neuropathies.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 11, p. 1544, doi. 10.1177/0883073815571049
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- Publication type:
- Article
Autosomal recessive cerebellar ataxias.
- Published in:
- Orphanet Journal of Rare Diseases, 2006, v. 1, p. 47, doi. 10.1186/1750-1172-1-47
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- Publication type:
- Article
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
- Published in:
- 2016
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- Publication type:
- journal article
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2505, doi. 10.3390/ijms22052505
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- Publication type:
- Article
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
- Published in:
- Glia, 2013, v. 61, n. 7, p. 1041, doi. 10.1002/glia.22493
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- Publication type:
- Article
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 3, p. 187, doi. 10.3390/life11030187
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- Publication type:
- Article
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 3, p. 407, doi. 10.1007/s00431-014-2397-0
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- Publication type:
- Article
Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0134106
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- Publication type:
- Article
Novel human pathological mutations.
- Published in:
- 2009
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- Publication type:
- Correction Notice
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 788, doi. 10.1038/ejhg.2010.14
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- Publication type:
- Article
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12817
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- Publication type:
- Article
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 11, p. 3051, doi. 10.1093/brain/awn228
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- Publication type:
- Article
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 9, p. 1809, doi. 10.1002/acn3.51432
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- Publication type:
- Article
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1436, doi. 10.1002/acn3.51095
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- Publication type:
- Article
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.
- Published in:
- Journal of International Advanced Otology, 2017, v. 13, n. 1, p. 93, doi. 10.5152/iao.2017.3379
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- Publication type:
- Article
Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 758, doi. 10.1111/cge.13719
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- Publication type:
- Article
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 2, p. 986, doi. 10.1007/s00415-023-12039-9
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- Publication type:
- Article
Characterization of CoQ biosynthesis in fibroblasts of patients with primary and secondary CoQ deficiency.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 53, doi. 10.1007/s10545-013-9620-4
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- Publication type:
- Article
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA).
- Published in:
- Antioxidants, 2020, v. 9, n. 10, p. 1020, doi. 10.3390/antiox9101020
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- Publication type:
- Article
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA).
- Published in:
- Antioxidants, 2020, v. 9, n. 10, p. 1020, doi. 10.3390/antiox9101020
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- Publication type:
- Article
Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration.
- Published in:
- Antioxidants, 2020, v. 9, n. 4, p. 313, doi. 10.3390/antiox9040313
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- Publication type:
- Article
Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1629, doi. 10.1093/hmg/ddz006
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- Publication type:
- Article
Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 1, p. 213, doi. 10.1093/hmg/ddu440
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- Publication type:
- Article
Charcot–Marie–Tooth disease due to MORC2 mutations in Spain.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 9, p. 3001, doi. 10.1111/ene.15001
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- Publication type:
- Article
Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 4, p. 1334, doi. 10.1111/ene.14700
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- Publication type:
- Article
Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: New mutations, R1315C and R1341W, associated with type 2M and 2B variants.
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- American Journal of Hematology, 1998, v. 59, n. 1, p. 57, doi. 10.1002/(SICI)1096-8652(199809)59:1<57::AID-AJH11>3.0.CO;2-Z
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- Publication type:
- Article
A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.
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- Biomedicines, 2023, v. 11, n. 2, p. 420, doi. 10.3390/biomedicines11020420
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- Publication type:
- Article
Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.
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- 2021
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- Publication type:
- Case Study
Profile of plasma microRNAs as a potential biomarker of Wilson's disease.
- Published in:
- Journal of Gastroenterology, 2024, v. 59, n. 10, p. 921, doi. 10.1007/s00535-024-02135-6
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- Publication type:
- Article
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
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- Journal of Gastroenterology, 2021, v. 56, n. 1, p. 78, doi. 10.1007/s00535-020-01745-0
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- Publication type:
- Article
Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene.
- Published in:
- British Journal of Haematology, 2001, v. 115, n. 3, p. 692, doi. 10.1046/j.1365-2141.2001.03132.x
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- Publication type:
- Article
Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene.
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- British Journal of Haematology, 2000, v. 111, n. 2, p. 552, doi. 10.1046/j.1365-2141.2000.02410.x
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- Publication type:
- Article
Cover Image, Volume 39, Issue 3.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. i, doi. 10.1002/humu.23405
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- Publication type:
- Article
Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. 415, doi. 10.1002/humu.23380
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- Publication type:
- Article
Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.
- Published in:
- Human Mutation, 2005, v. 25, n. 5, p. 453, doi. 10.1002/humu.20167
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- Publication type:
- Article
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 23, p. 4603, doi. 10.1093/hmg/ddp427
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- Publication type:
- Article
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16400, doi. 10.3390/ijms242216400
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- Publication type:
- Article
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 245, doi. 10.1007/s10048-017-0524-6
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- Publication type:
- Article
Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 4, p. 347, doi. 10.1111/j.1529-8027.2011.00369.x
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- Publication type:
- Article
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2010, v. 15, n. 4, p. 334, doi. 10.1111/j.1529-8027.2010.00286.x
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- Publication type:
- Article