RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno +13 more
wiley +1 more source
Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou +12 more
wiley +1 more source
cDNA and Gene Analyses Imply a Novel Structure for a Rat Carcinoembryonic Antigen-related Protein [PDF]
, 1990 The gene encoding the human tumor marker carcinoembryonic antigen (CEA) belongs to a gene family which can be subdivided into the CEA and the pregnancy-specific glycoprotein subgroups.
Lucas, Kurt +3 more
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Assessing the number of ancestral alternatively spliced exons in the human genome
BMC Genomics, 2006 Background It is estimated that between 35% and 74% of all human genes undergo alternative splicing. However, as a gene that undergoes alternative splicing can have between one and dozens of alternative exons, the number of alternatively spliced genes by
Sorek Rotem, Dror Gideon, Shamir Ron
doaj +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum, 2013 Background and Objectives: Friedreich’s ataxia (FRDA) is an autosomal recessive disorder that is typically associated with dysarthria, muscle weakness, spasticity in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of
Naseroleslami M +6 more
doaj
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
BMC Medical Genetics, 2007 Background Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD reading frame is restored and ...
van Ommen Gert-Jan B +3 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu +5 more
wiley +1 more source
Targeting and regulatory mechanisms in chromosome-wide gene regulation using Drosophila melanogaster as a model organism [PDF]
, 2010 Tese de mestrado. Biologia (Biologia Molecular e Genética). Universidade de Lisboa, Faculdade de Ciências, 2010O cromossoma 4 de Drosophila melanogaster é muito heterocromático, sendo rico em DNA satélite e DNA de elementos transposáveis. Apesar das suas
Figueiredo, Ana Margarida Adónis, 1986-
core
SRSF3 Is a Critical Requirement for Inclusion of Exon 3 of BIS Pre-mRNA [PDF]
, 2020 Ji-Ye Baek +5 more
openalex +1 more source