Search Results - "ZATZ, M"
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Isolation, characterization, and differentiation potential of canine adipose-derived stem cells
Published in Cell transplantation (01-03-2010)“…Adipose tissue may represent a potential source of adult stem cells for tissue engineering applications in veterinary medicine. It can be obtained in large…”
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ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons
Published in Neurobiology of disease (01-08-2024)“…Vaccinia-related kinase 1 (VRK1) is a gene which has been implicated in the pathological process of a broad range of neurodevelopmental disorders as well as…”
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A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability
Published in Molecular psychiatry (01-08-2016)“…The genetic basis of intellectual disability (ID) is extremely heterogeneous and relatively little is known about the role of autosomal recessive traits. In a…”
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Molecular cloning, localization and circadian expression of chicken melanopsin (Opn4): differential regulation of expression in pineal and retinal cell types
Published in Journal of neurochemistry (01-01-2005)“…The avian retina and pineal gland contain autonomous circadian oscillators and photo‐entrainment pathways, but the photopigment(s) that mediate entrainment…”
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Stem cells for amyotrophic lateral sclerosis modeling and therapy: Myth or fact?
Published in Cytometry. Part A (01-03-2015)“…Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease whose pathophysiology is poorly understood. Aiming to better understand the…”
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Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
Published in Clinical genetics (01-11-2018)Get full text
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Human adipose-derived mesenchymal stromal cells injected systemically into GRMD dogs without immunosuppression are able to reach the host muscle and express human dystrophin
Published in Cell transplantation (01-01-2012)“…Duchenne muscular dystrophy (DMD), a lethal X-linked disorder, is the most common and severe form of muscular dystrophies, affecting 1 in 3,500 male births…”
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Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin
Published in Neuromuscular disorders : NMD (01-11-2014)“…Highlights • Mildly affected DMD patients with nonsense mutations and dystrophin deficiency. • Mild DMD phenotype with no interference of reported modifiers…”
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Mild course in atypical Duchenne muscular dystrophy patients is not caused by utrophin overexpression
Published in Neuromuscular disorders : NMD (01-10-2015)Get full text
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African ancestry protects against Alzheimer's disease-related neuropathology
Published in Molecular psychiatry (01-01-2013)“…Previous studies in dementia epidemiology have reported higher Alzheimer's disease rates in African-Americans when compared with White Americans. To determine…”
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Nemaline myopathy: Clinical, pathological, muscle imaging and molecular characterization in a cohort of Brazilian patients
Published in Neuromuscular disorders : NMD (01-10-2016)Get full text
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A normal life without muscle dystrophin
Published in Neuromuscular disorders : NMD (01-05-2015)“…Highlights • GRMD dog with no dystrophin and normal lifespan • Mild phenotype in a GRMD dog and one of his offspring • Mild phenotype in GRMD dogs is not…”
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Nemaline myopathy: Next generation sequencing (NGS) significantly improving the molecular classification of Brazilian families
Published in Neuromuscular disorders : NMD (01-10-2015)Get full text
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Long term follow-up of GRMD dogs transplanted with human adipose derived stem cells
Published in Neuromuscular disorders : NMD (01-10-2015)Get full text
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Human Endometrial-Derived Mesenchymal Stem Cells Suppress Inflammation in the Central Nervous System of EAE Mice
Published in Stem cell reviews (01-09-2012)Get full text
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What motivates patients' relatives to undergo genetic testing in search of a pathogenic mutation?
Published in Neuromuscular disorders : NMD (01-10-2016)Get full text
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Jagged1 as a modifier of the DMD phenotype: What is next?
Published in Neuromuscular disorders : NMD (01-10-2016)Get full text
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The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case
Published in Clinical genetics (01-03-2010)Get full text
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Human Mesenchymal Stromal Cells Transplantation May Enhance or Inhibit 4T1 Murine Breast Adenocarcinoma through Different Approaches
Published in Stem Cells International (01-01-2015)“…The use of Mesenchymal Stromal Cells (MSCs) aiming to treat cancer has shown very contradictory results. In an attempt to clarify the contradictory results…”
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