Bramswig, N. et al. 2018 Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) - issue: 9 - volume: 137 - pages: 753 - 768.
Chatzifrangkeskou, M. et al. 2018 Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation Hyper-activation of extracellular signal-regulated kinase (ERK) 1/2 contributes to heart dysfunction in cardiomyopathy caused by mutations in the lamin A/C gene (LMNA cardiomyopathy). The mechanism of... Hum Mol Genet - issue: 17 - volume: 27 - pages: 3060-3078.
Bramswig, NC. et al. 2018 Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the... Hum Genet - issue: 9 - volume: 137 - pages: 753-768.
Barthelemy, F. et al. 2018 Dysferlin Exon 32 Skipping in Patient Cells Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize... - issue: - volume: 1828 - pages: 489-496.
Vermalle, M. et al. 2018 [Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers]. The management of pheochromocytoma and paraganglioma has deeply evolved over the last years due to the discovery of novel genes of susceptibility, especially SDHx, MAX and TMEM127. While the... Ann Endocrinol (Paris) - issue: - volume: 79 Suppl 1 - pages: S10-S21.
Vermalle, M. et al. 2018 Lack of functional remission in Cushing's syndrome. INTRODUCTION: Hypercortisolism leads to severe clinical consequences persisting after the onset of remission. These physical sequelae of cortisol exposure are known to profoundly impact the patient's... Endocrine - issue: 3 - volume: 61 - pages: 518-525.
Ku, CR. et al. 2018 Long-acting FC-fusion rhGH (GX-H9) shows potential for up to twice-monthly administration in GH-deficient adults. OBJECTIVE: Hybrid Fc-fused rhGH (GX-H9) is a long-acting recombinant human growth hormone (GH) under clinical development for both adults and children with GH deficiency (GHD). We compared the... Eur J Endocrinol - issue: 3 - volume: 179 - pages: 169-179.
Romanet, P. et al. 2018 Clinical study on the efficacy, acceptance, and safety of hearing aids in patients with mild to moderate presbyacusis. BACKGROUND: The primary objective of this trial was to demonstrate the effect of wearing a Hearing aid (HA) on improvement of hearing and comprehension in everyday life situations. METHODS: This... Panminerva Med - issue: 3 - volume: 60 - pages: 92-100.
Bramswig, NC. et al. 2018 Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the... Hum. Genet. - issue: 9 - volume: 137 - pages: 753-768.
Ghedira, N. et al. 2018 Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome BACKGROUND: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling... BMC Pediatr - issue: 1 - volume: 18 - pages: 286.
Ghedira, N. et al. 2018 Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome BACKGROUND:Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling... - issue: 1 - volume: 18 - pages: 286.
Nguyen, K. et al. 2018 Genetic spectrum of hypertrophic cardiomyopathy revisited. Whole Exome Sequencing reveals extreme genetic heterogeneity and new gene mutations in a multicenter series of 200 patients Background and objectives: Hypertrophic cardiomyopathy (HCM) is expected to be caused by a heterozygous mutation in one of the 5 main sarcomere genes (MYBPC3, MYH7, TNNT2, MYL2, TNNI3). However, the... - issue: - volume: 39 - pages: .
Zaffran, S. et al. 2018 Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional... Genesis - issue: 5-6 - volume: 56 - pages: e23221.
Cavodeassi, F. et al. 2018 The hedgehog pathway and ocular developmental anomalies Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,... Hum. Genet. - issue: - volume: - pages: .
Cavodeassi, F. et al. 2018 The hedgehog pathway and ocular developmental anomalies Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,... Hum Genet - issue: - volume: - pages: .
Cavodeassi, F. et al. 2018 The hedgehog pathway and ocular developmental anomalies Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,... Hum. Genet. - issue: - volume: - pages: .
Juneja, M. et al. 2018 PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease BACKGROUND: Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention. Identification of... J. Neurol. Neurosurg. Psychiatry - issue: 8 - volume: 89 - pages: 870-878.
Eriksson, M. et al. 2018 Health-related quality of life and orthosis use in a Swedish population with arthrogryposis. BACKGROUND: Joint contractures are the main characteristics for children with arthrogryposis multiplex congenita. Orthoses are often used to enable or facilitate walking. OBJECTIVES: To describe... Prosthet Orthot Int - issue: 4 - volume: 42 - pages: 402-409.
Frankel, D. et al. 2018 MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies Hereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified... - issue: 4 - volume: 17 - pages: e12766.
Trainer, PJ. et al. 2018 A randomised, open-label, parallel group phase 2 study of antisense oligonucleotide therapy in acromegaly Objective: ATL1103 is a second-generation antisense oligomer targeting the human growth hormone (GH) receptor. This phase 2 randomised, open-label, parallel-group study assessed the potential of... - issue: 2 - volume: 179 - pages: 97-108.