Search Results - "LOSSOS, Alexander"
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Neurologic complications of immune checkpoint inhibitors
Published in Journal of neuro-oncology (01-05-2018)“…Immune checkpoint inhibitors (ICPIs) have recently emerged as a novel treatment for cancer. These agents, transforming the field of oncology, are not devoid of…”
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A case report of unilateral cervical lymphadenopathy and multiple cranial neuropathies following mRNA-COVID-19 vaccination
Published in BMC neurology (26-09-2022)“…Background We report a rare case of ipsilateral multiple cranial neuropathy and ipsilateral lymphadenopathy following mRNA-COVID-19 vaccination. Case…”
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European Association of Neuro-Oncology (EANO) guidelines for treatment of primary central nervous system lymphoma (PCNSL)
Published in Neuro-oncology (Charlottesville, Va.) (05-01-2023)“…The management of primary central nervous system (PCNSL) is one of the most controversial topics in neuro-oncology because of the complexity of the disease and…”
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Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism
Published in EMBO molecular medicine (16-05-2024)“…In this Correspondence, B. Minassian and colleagues report that GHF201, an autophagy activator shown to diminish abnormal glycogen aggregates in a mouse model…”
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Short report: Plasma based biomarkers detect radiation induced brain injury in cancer patients treated for brain metastasis: A pilot study
Published in PloS one (28-11-2023)“…Background Radiotherapy has an important role in the treatment of brain metastases but carries risk of short and/or long-term toxicity, termed…”
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MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification
Published in Current neurology and neuroscience reports (01-10-2019)“…Purpose of Review Until recently, the gene associated with the recessive form of familial brain calcification (PFBC, Fahr disease) was unknown. MYORG , a gene…”
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Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns
Published in Acta neuropathologica (01-11-2020)“…Replication repair deficiency (RRD) leading to hypermutation is an important driving mechanism of high-grade glioma (HGG) occurring predominantly in the…”
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Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism
Published in EMBO molecular medicine (07-10-2021)“…This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11…”
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Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
Published in Human molecular genetics (15-10-2015)“…Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating α-1,6-glucosidic branches from α-1,4-linked glucose chains,…”
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Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings
Published in Annals of neurology (01-09-2012)“…Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and…”
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Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy
Published in Journal of lipid research (01-08-2017)“…Adult polyglucosan body disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss. The…”
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Neurological misdiagnoses of lymphoma
Published in Neurological sciences (01-05-2021)“…Background Lymphoma of the nervous system is rare and usually involves the brain, spinal cord, or peripheral nerves. Hence, it has varied clinical…”
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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
Published in European journal of human genetics : EJHG (01-06-2012)“…The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive…”
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Multi-system neurological disorder associated with a CRYAB variant
Published in Neurogenetics (01-05-2021)“…We report a multiplex family with extended multisystem neurological phenotype associated with a CRYAB variant. Two affected siblings were evaluated with whole…”
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Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome
Published in American journal of human genetics (01-04-2008)“…Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Both “uncomplicated” and “complicated” forms have been…”
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Clinical utility and treatment outcome of comprehensive genomic profiling in high grade glioma patients
Published in Journal of neuro-oncology (01-10-2016)“…Genomic research of high grade glioma (HGG) has revealed complex biology with potential for therapeutic impact. However, the utilization of this information…”
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SCLC, Paraneoplastic Dermatomyositis, Positive Transcription Intermediary Factor 1-γ, and Point Mutation in the Transcription Intermediary Factor 1-γ Coding Gene: A Case Report
Published in JTO clinical and research reports (01-09-2021)“…SCLC is frequently associated with paraneoplastic syndromes, including dermatomyositis. Patients with malignancy-associated dermatomyositis express a specific…”
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In vivo assessment of the window of barrier opening after osmotic blood-brain barrier disruption in humans
Published in Journal of neurosurgery (01-04-2000)“…Osmotic blood-brain barrier (BBB) disruption induced by intraarterial infusion of mannitol is used in conjunction with chemotherapy to treat human brain…”
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Long-circulating liposomes for drug delivery in cancer therapy: a review of biodistribution studies in tumor-bearing animals
Published in Advanced drug delivery reviews (17-03-1997)“…Inhibition of the rapid uptake of liposomes by the reticulo-endothelial system (RES) and reduction of the rate of drug leakage have resulted in…”
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Teaching Neuro Images : Hypertrophic olivary degeneration in a young man with POLG gene mutation
Published in Neurology (18-04-2023)Get full text
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