about
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesMutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersNovel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.Epigenetic silencing of the myelopoiesis regulator microRNA-223 by the AML1/ETO oncoprotein.MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementLongitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.Altered PLP1 splicing causes hypomyelination of early myelinating structures.Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersRPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.Retinoic acid targets DNA-methyltransferases and histone deacetylases during APL blast differentiation in vitro and in vivo.P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report.Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasisFrataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neuronsEpigenetic reprogramming of breast cancer cells by valproic acid occurs regardless of estrogen receptor status.Targeting of the N-terminal coiled coil oligomerization interface by a helix-2 peptide inhibits unmutated and imatinib-resistant BCR/ABL.LMNA-associated myopathies: the Italian experience in a large cohort of patients.MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.Polycombs and microRNA-223 regulate human granulopoiesis by transcriptional control of target gene expression.PRRT2 is mutated in familial and non-familial benign infantile seizures.Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination.Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.ATP1A3-related epileptic encephalopathy responding to ketogenic diet.The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.Expanding CEP290 mutational spectrum in ciliopathiesHeterochromatic gene repression of the retinoic acid pathway in acute myeloid leukemiaExpanding the clinical phenotype of CAPN1- associated mutations: A new case with congenital-onset pure spastic paraplegiaChildhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrumCorrigendum to “Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia” [Clin. Neurol. Neurosurg. 168 (May) (2018) 60–63]Sequential valproic acid/all-trans retinoic acid treatment reprograms differentiation in refractory and high-risk acute myeloid leukemiaA novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorderSLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia
P50
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P50
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հետազոտող
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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Lorena Travaglini
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P106
P21
P31
P496
0000-0003-0142-6516