Found: 106
Select item for more details and to access through your institution.
A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A phase II, open-label evaluation of cysteamine tolerability in patients with Huntington's disease.
- Published in:
- Movement Disorders, 2015, v. 30, n. 2, p. 288, doi. 10.1002/mds.26101
- By:
- Publication type:
- Article
Non-invasive biomechanical characterization of intervertebral discs by shear wave ultrasound elastography: a feasibility study.
- Published in:
- European Radiology, 2014, v. 24, n. 12, p. 3210, doi. 10.1007/s00330-014-3382-8
- By:
- Publication type:
- Article
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 4, p. 365, doi. 10.1111/jns.12192
- By:
- Publication type:
- Article
Allelic loss on chromosomes 2q21 and 19p 13.2 in oxyphilic thyroid tumors.
- Published in:
- International Journal of Cancer, 2004, v. 111, n. 3, p. 463, doi. 10.1002/ijc.20259
- By:
- Publication type:
- Article
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36277-7
- By:
- Publication type:
- Article
Theory of mind and empathy in preclinical and clinical Huntington's disease.
- Published in:
- Social Cognitive & Affective Neuroscience, 2016, v. 11, n. 1, p. 89, doi. 10.1093/scan/nsv093
- By:
- Publication type:
- Article
Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Bioenergetic defect associated with mK<sub>ATP</sub> channel opening in a mouse model carrying a mitofusin 2 mutation.
- Published in:
- FASEB Journal, 2011, v. 25, n. 5, p. 1618, doi. 10.1096/fj.10-173609
- By:
- Publication type:
- Article
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease.
- Published in:
- Neurogenetics, 2010, v. 11, n. 1, p. 127, doi. 10.1007/s10048-009-0207-z
- By:
- Publication type:
- Article
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 145, doi. 10.1007/s10048-008-0166-9
- By:
- Publication type:
- Article
Study on cervical muscle volume by means of three-dimensional reconstruction.
- Published in:
- Journal of Magnetic Resonance Imaging, 2014, v. 39, n. 6, p. 1411, doi. 10.1002/jmri.24326
- By:
- Publication type:
- Article
Comparison of methods to assess quadriceps muscle volume using magnetic resonance imaging.
- Published in:
- Journal of Magnetic Resonance Imaging, 2009, v. 30, n. 5, p. 1116, doi. 10.1002/jmri.21867
- By:
- Publication type:
- Article
The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29972-9
- By:
- Publication type:
- Article
BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 1, p. 81, doi. 10.1007/s10038-005-0320-2
- By:
- Publication type:
- Article
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
- Published in:
- 2023
- By:
- Publication type:
- journal article
Reply: The expanding neurological phenotype of DNM1L-related disorders.
- Published in:
- 2018
- By:
- Publication type:
- letter
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A recessive ataxia diagnosis algorithm for the next generation sequencing era.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1815, doi. 10.3390/ijms23031815
- By:
- Publication type:
- Article
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13294, doi. 10.3390/ijms222413294
- By:
- Publication type:
- Article
Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 7, p. 692, doi. 10.1002/pd.3876
- By:
- Publication type:
- Article
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1202, doi. 10.3390/genes13071202
- By:
- Publication type:
- Article
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 352, doi. 10.1038/ejhg.2011.217
- By:
- Publication type:
- Article
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 395, doi. 10.1038/ejhg.2008.200
- By:
- Publication type:
- Article
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 6, p. 680, doi. 10.1038/sj.ejhg.5201977
- By:
- Publication type:
- Article
Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1195, doi. 10.1038/sj.ejhg.5201688
- By:
- Publication type:
- Article
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372
- By:
- Publication type:
- Article
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 409, doi. 10.1038/sj.ejhg.5201358
- By:
- Publication type:
- Article
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 6, p. 483, doi. 10.1038/sj.ejhg.5201177
- By:
- Publication type:
- Article
Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 962, doi. 10.1038/ng0813-962b
- By:
- Publication type:
- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
- Published in:
- Nature Genetics, 2013, v. 45, n. 6, p. 639, doi. 10.1038/ng.2613
- By:
- Publication type:
- Article
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 294, doi. 10.1038/ng1749
- By:
- Publication type:
- Article
Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction.
- Published in:
- European Journal of Endocrinology, 2024, v. 190, n. 4, p. 266, doi. 10.1093/ejendo/lvae030
- By:
- Publication type:
- Article
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.864445
- By:
- Publication type:
- Article
Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.685532
- By:
- Publication type:
- Article
Dermatologic Features of Smith-Magenis Syndrome.
- Published in:
- Pediatric Dermatology, 2015, v. 32, n. 3, p. 337, doi. 10.1111/pde.12517
- By:
- Publication type:
- Article
Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 1, p. 30, doi. 10.1159/000507249
- By:
- Publication type:
- Article
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
- By:
- Publication type:
- Article
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 377, doi. 10.1111/cge.14270
- By:
- Publication type:
- Article
Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 4, p. 604, doi. 10.1111/cge.13902
- By:
- Publication type:
- Article
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 723, doi. 10.1111/cge.13700
- By:
- Publication type:
- Article
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 354, doi. 10.1111/cge.13603
- By:
- Publication type:
- Article
Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 10, p. 828, doi. 10.1002/pd.997
- By:
- Publication type:
- Article
Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01768-1
- By:
- Publication type:
- Article
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α.
- Published in:
- British Journal of Dermatology, 2023, v. 189, n. 1, p. 131, doi. 10.1093/bjd/ljad075
- By:
- Publication type:
- Article
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042242
- By:
- Publication type:
- Article
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.
- Published in:
- Nature Genetics, 2002, v. 31, n. 1, p. 79, doi. 10.1038/ng874
- By:
- Publication type:
- Article