Found: 96
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Isolation of mutant mammalian cells altered in polyamine transport.
- Published in:
- Journal of Cellular Physiology, 1978, v. 97, n. 3, p. 335, doi. 10.1002/jcp.1040970308
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- Publication type:
- Article
Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates.
- Published in:
- 2008
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- Publication type:
- journal article
AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model.
- Published in:
- EMBO Molecular Medicine, 2022, v. 14, n. 5, p. 1, doi. 10.15252/emmm.202114649
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- Publication type:
- Article
Variation on a trinucleotide theme.
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- Nature Medicine, 1999, v. 5, n. 4, p. 383, doi. 10.1038/7381
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- Publication type:
- Article
Disease Progression Despite Early Loss of Polyglutamine Protein Expression in SCA7 Mouse Model.
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- Journal of Neuroscience, 2004, v. 24, n. 8, p. 1881, doi. 10.1523/JNEUROSCI.4407-03.2004
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- Publication type:
- Article
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif.
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- EMBO Journal, 2001, v. 20, n. 17, p. 4803, doi. 10.1093/emboj/20.17.4803
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- Publication type:
- Article
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
- Published in:
- 2011
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- Publication type:
- journal article
Insulin stimulates myogenesis in a rat myoblast line.
- Published in:
- Nature, 1974, v. 251, n. 5476, p. 618, doi. 10.1038/251618a0
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- Publication type:
- Article
G-quadruplex RNA structure as a signal for neurite mRNA targeting.
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- EMBO Reports, 2011, v. 12, n. 7, p. 697, doi. 10.1038/embor.2011.76
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- Publication type:
- Article
BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families.
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- Journal of Human Genetics, 2006, v. 51, n. 1, p. 81, doi. 10.1007/s10038-005-0320-2
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- Publication type:
- Article
The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer.
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- Nucleic Acids Research, 2008, v. 36, n. 15, p. 4902, doi. 10.1093/nar/gkn472
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- Publication type:
- Article
Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32971
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- Publication type:
- Article
Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2346, doi. 10.1002/ajmg.a.63334
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- Publication type:
- Article
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1626, doi. 10.1002/ajmg.a.37645
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- Publication type:
- Article
Les rencontres RARE 2017 vues du point de vue de la Fondation Maladies Rares.
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- Médecine Sciences, 2018, v. 34, p. 8, doi. 10.1051/medsci/201834s105
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- Publication type:
- Article
Spatial control of nucleoporin condensation by fragile X‐related proteins.
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- EMBO Journal, 2020, v. 39, n. 20, p. 1, doi. 10.15252/embj.2020104467
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- Publication type:
- Article
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 306, doi. 10.1038/ng.778
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- Publication type:
- Article
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1134, doi. 10.1038/ng2086
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- Publication type:
- Article
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.
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- Nature Genetics, 1999, v. 22, n. 1, p. 13, doi. 10.1038/8719
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- Publication type:
- Article
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA.
- Published in:
- BMC Psychiatry, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12888-022-04213-6
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- Publication type:
- Article
SPG11 spastic paraplegia.
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- Journal of Neurology, 2009, v. 256, n. 1, p. 104, doi. 10.1007/s00415-009-0083-3
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- Publication type:
- Article
X-Linked Adrenoleukodystrophy.
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- Annals of the New York Academy of Sciences, 1996, v. 804, n. 1, p. 461, doi. 10.1111/j.1749-6632.1996.tb18637.x
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- Publication type:
- Article
Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome.
- Published in:
- Nature, 1987, v. 328, n. 6126, p. 168, doi. 10.1038/328168a0
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- Publication type:
- Article
MONOGENIC CAUSES OF X-LINKED MENTAL RETARDATION.
- Published in:
- Nature Reviews Genetics, 2001, v. 2, n. 9, p. 669, doi. 10.1038/35088558
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- Publication type:
- Article
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 135, doi. 10.1007/s00439-002-0869-1
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- Publication type:
- Article
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1482, doi. 10.1038/ejhg.2015.29
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- Publication type:
- Article
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 637, doi. 10.1038/ejhg.2012.226
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- Publication type:
- Article
JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009.
- Published in:
- 2009
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- Publication type:
- Obituary
Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
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- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1195, doi. 10.1038/sj.ejhg.5201688
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- Publication type:
- Article
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
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- European Journal of Human Genetics, 2006, v. 14, n. 4, p. 418, doi. 10.1038/sj.ejhg.5201593
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- Publication type:
- Article
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372
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- Publication type:
- Article
Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 689, doi. 10.1038/sj.ejhg.5201247
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- Publication type:
- Article
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
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- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 181, doi. 10.1038/sj.ejhg.5201134
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- Publication type:
- Article
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
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- European Journal of Human Genetics, 2001, v. 9, n. 5, p. 355, doi. 10.1038/sj.ejhg.5200635
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- Publication type:
- Article
Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP).
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 638, doi. 10.1038/sj.ejhg.5200233
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- Publication type:
- Article
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.
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- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 325, doi. 10.1038/sj.ejhg.5200189
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- Publication type:
- Article
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 10, p. 1234, doi. 10.1001/jamaneurol.2018.1478
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- Publication type:
- Article
Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms.
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- Journal of Medical Systems, 2018, v. 42, n. 1, p. 1, doi. 10.1007/s10916-017-0844-y
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- Publication type:
- Article
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 411, doi. 10.1093/brain/awt338
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- Publication type:
- Article
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
- Published in:
- FASEB Journal, 2013, v. 27, n. 8, p. 3384, doi. 10.1096/fj.12-220947
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- Publication type:
- Article
Genome analysis and the human x chromosome.
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- JAMA: Journal of the American Medical Association, 1993, v. 269, n. 15, p. 2013
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- Publication type:
- Article
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 4, p. 296, doi. 10.1111/cge.14190
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- Publication type:
- Article
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 7, p. 1314, doi. 10.1007/s00415-016-8112-5
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- Publication type:
- Article
The Evolutionary Origin of Peroxisomes: An ER-Peroxisome Connection.
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- Molecular Biology & Evolution, 2006, v. 23, n. 4, p. 838
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- Publication type:
- Article
Clinical and functional characterization of recurrent missense variants implicated in THOC6 -related intellectual disability.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 952, doi. 10.1093/hmg/ddy391
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- Publication type:
- Article
Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 20, p. 4215, doi. 10.1093/hmg/ddt273
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- Publication type:
- Article
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
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- Acta Neuropathologica, 2012, v. 124, n. 2, p. 273, doi. 10.1007/s00401-012-0982-8
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- Publication type:
- Article
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
- Published in:
- Acta Neuropathologica, 2011, v. 121, n. 2, p. 253, doi. 10.1007/s00401-010-0754-2
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- Publication type:
- Article
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 98, doi. 10.1002/ajmg.a.33785
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- Publication type:
- Article
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
- Published in:
- 2016
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- Publication type:
- journal article