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1. Full Text PO200 SHP2 inhibition alleviates the pathogenic effects of musk antibodies
by Huda, Saif and Michelangelo, Cao and Anna, De Rosa and Mark, Woodhall and Judith, Cossins and Michelangelo, Maestri and Roberta, Ricciardi and David, Beeson and Angela, Vincent
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A64 - A64
BackgroundMyasthenia gravis with muscle-specific kinase (MuSK) antibodies (Abs) typically causes cranial and bulbar muscle weakness with frequent respiratory... 
Immunoglobulins | Phosphorylation
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2. Full Text SHP2 inhibition alleviates the pathogenic effects of musk antibodies
by Huda, Saif and Michelangelo, Cao and Anna, De Rosa and Mark, Woodhall and Judith, Cossins and Michelangelo, Maestri and Roberta, Ricciardi and David, Beeson and Angela, Vincent
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue 12
Viral antibodies | Treatment outcome | Care and treatment | Myasthenia gravis | Analysis | Antibodies | Dosage and administration
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3. Full Text Guidelines for the use and interpretation of assays for monitoring autophagy
by Klionsky, Daniel J and Abdalla, Fabio C and Abeliovich, Hagai and Abraham, Robert T and Acevedo-Arozena, Abraham and Adeli, Khosrow and Agholme, Lotta and Agnello, Maria and Agostinis, Patrizia and Aguirre-Ghiso, Julio A and Ahn, Hyung Jun and Ait-Mohamed, Ouardia and Ait-Si-Ali, Slimane and Akematsu, Takahiko and Akira, Shizuo and Al-Younes, Hesham M and Al-Zeer, Munir A and Albert, Matthew L and Albin, Roger L and Alegre-Abarrategui, Javier and Aleo, Maria Francesca and Alirezaei, Mehrdad and Almasan, Alexandru and Almonte-Becerril, Maylin and Amano, Atsuo and Amaravadi, Ravi K and Amarnath, Shoba and Amer, Amal O and Andrieu-Abadie, Nathalie and Anantharam, Vellareddy and Ann, David K and Anoopkumar-Dukie, Shailendra and Aoki, Hiroshi and Apostolova, Nadezda and Arancia, Giuseppe and Aris, John P and Asanuma, Katsuhiko and Asare, Nana Y.O and Ashida, Hisashi and Askanas, Valerie and Askew, David S and Auberger, Patrick and Baba, Misuzu and Backues, Steven K and Baehrecke, Eric H and Bahr, Ben A and Bai, Xue-Yuan and Bailly, Yannick and Baiocchi, Robert and Baldini, Giulia and Balduini, Walter and Ballabio, Andrea and Bamber, Bruce A and Bampton, Edward T.W and Juhász, Gábor and Bartholomew, Clinton R and Bassham, Diane C and Bast, Robert C and Batoko, Henri and Bay, Boon-Huat and Beau, Isabelle and Béchet, Daniel M and Begley, Thomas J and Behl, Christian and Behrends, Christian and Bekri, Soumeya and Bellaire, Bryan and Bendall, Linda J and Benetti, Luca and Berliocchi, Laura and Bernardi, Henri and Bernassola, Francesca and Besteiro, Sébastien and Bhatia-Kissova, Ingrid and Bi, Xiaoning and Biard-Piechaczyk, Martine and Blum, Janice S and Boise, Lawrence H and Bonaldo, Paolo and Boone, David L and Bornhauser, Beat C and Bortoluci, Karina R and Bossis, Ioannis and Bost, Frédéric and Bourquin, Jean-Pierre and Boya, Patricia and Boyer-Guittaut, Michaël and Bozhkov, Peter V and Brady, Nathan R and Brancolini, Claudio and Brech, Andreas and Brenman, Jay E and Brennand, Ana and Bresnick, Emery H and Brest, Patrick and Bridges, Dave and Bristol, Molly L and Brookes, Paul S and Brown, Eric J and Brumell, John H and ... and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Geriatrik and Institutionen för medicin och hälsa and Farmakologi and Experimentell patologi and Hälsouniversitetet and Cellbiologi
Autophagy, ISSN 1554-8627, 04/2012, Volume 8, Issue 4, pp. 445 - 544
In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and... 
stress | vacuole | autolysosome | flux | LC3 | autophagosome | lysosome | phagophore | Binding | Proteins | Landes | Calcium | Bioscience | Biology | Cell | Cycle | Cancer | Organogenesis | Phagophore | Lysosome | Autolysosome | Flux | Autophagosome | Vacuole | Stress | ACTIVATED PROTEIN-KINASE | CHAPERONE-MEDIATED AUTOPHAGY | VACUOLE TARGETING PATHWAY | ENDOPLASMIC-RETICULUM STRESS | ISOLATED RAT HEPATOCYTES | STARVATION-INDUCED AUTOPHAGY | GLUCAGON-INDUCED AUTOPHAGY | CELL BIOLOGY | PROGRAMMED CELL-DEATH | BREAST-CANCER CELLS | BETAINE HOMOCYSTEINE METHYLTRANSFERASE | Biological Assay - methods | Animals | Autophagy - genetics | Models, Biological | Humans | Life Sciences | Cellular Biology | Review | Medical and Health Sciences | Medicin och hälsovetenskap
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4. Full Text Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
by Sims, Rebecca and Van Der Lee, Sven J and Naj, Adam C and Bellenguez, Céline and Badarinarayan, Nandini and Jakobsdottir, Johanna and Kunkle, Brian W and Boland, Anne and Raybould, Rachel and Bis, Joshua C and Martin, Eden R and Grenier-Boley, Benjamin and Heilmann-Heimbach, Stefanie and Chouraki, Vincent and Kuzma, Amanda B and Sleegers, Kristel and Vronskaya, Maria and Ruiz, Agustin and Graham, Robert R and Olaso, Robert and Hoffmann, Per and Grove, Megan L and Vardarajan, Badri N and Hiltunen, Mikko and Nöthen, Markus M and White, Charles C and Hamilton-Nelson, Kara L and Epelbaum, Jacques and Maier, Wolfgang and Choi, Seung-Hoan and Beecham, Gary W and Dulary, Cécile and Herms, Stefan and Smith, Albert V and Funk, Cory C and Derbois, Céline and Forstner, Andreas J and Ahmad, Shahzad and Li, Hongdong and Bacq, Delphine and Harold, Denise and Satizabal, Claudia L and Valladares, Otto and Squassina, Alessio and Thomas, Rhodri and Brody, Jennifer A and Qu, Liming and Sánchez-Juan, Pascual and Morgan, Taniesha and Wolters, Frank J and Zhao, Yi and Garcia, Florentino Sanchez and Denning, Nicola and Fornage, Myriam and Malamon, John and Naranjo, Maria Candida Deniz and Majounie, Elisa and Mosley, Thomas H and Dombroski, Beth and Wallon, David and Lupton, Michelle K and Dupuis, Josée and Whitehead, Patrice and Fratiglioni, Laura and Medway, Christopher and Jian, Xueqiu and Mukherjee, Shubhabrata and Keller, Lina and Brown, Kristelle and Lin, Honghuang and Cantwell, Laura B and Panza, Francesco and McGuinness, Bernadette and Moreno-Grau, Sonia and Burgess, Jeremy D and Solfrizzi, Vincenzo and Proitsi, Petra and Adams, Hieab H and Allen, Mariet and Seripa, Davide and Pastor, Pau and Cupples, L Adrienne and Price, Nathan D and Hannequin, Didier and Frank-García, Ana and Levy, Daniel and Chakrabarty, Paramita and Caffarra, Paolo and Giegling, Ina and Beiser, Alexa S and Giedraitis, Vilmantas and Hampel, Harald and Garcia, Melissa E and Wang, Xue and Lannfelt, Lars and Mecocci, Patrizia and Eiriksdottir, Gudny and Crane, Paul K and Pasquier, Florence and Boccardi, Virginia and ... and EADI and GERAD PERADES and ARUKConsortium and CHARGE and ADGC and GERAD/PERADES, CHARGE, ADGC, EADI and ARUK Consortium and Stockholms universitet and Centrum för forskning om äldre och åldrande (ARC), (tills m KI) and Samhällsvetenskapliga fakulteten
Nature Genetics, ISSN 1061-4036, 09/2017, Volume 49, Issue 9, pp. 1373 - 1384
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174... 
COMMON VARIANTS | IDENTIFIES VARIANTS | METAANALYSIS | GENOTYPE IMPUTATION | LOW-FREQUENCY | SUSCEPTIBILITY | GENETICS & HEREDITY | RISK | LOCI | WAVE2 COMPLEX | GENOME-WIDE ASSOCIATION | Amino Acid Sequence | Microglia - metabolism | Genetic Predisposition to Disease - genetics | Gene Frequency | Humans | Immunity, Innate - genetics | Genotype | Gene Expression Profiling | Case-Control Studies | Linkage Disequilibrium | Membrane Glycoproteins - genetics | Sequence Homology, Amino Acid | Exome - genetics | Protein Interaction Maps - genetics | Adaptor Proteins, Signal Transducing - genetics | Phospholipase C gamma - genetics | Polymorphism, Single Nucleotide | Alzheimer Disease - genetics | Odds Ratio | Receptors, Immunologic - genetics | Immune response | Genetic variation | Physiological aspects | Development and progression | Genetic aspects | Research | Alzheimer's disease | Neurodegenerative diseases | Genes | Genomics | Health risks | Innate immunity | Genomes | Disease control | Immunity | Microglia | Proteins | Studies | Consortia | DNA microarrays | Genotyping | Gene frequency | DNA methylation | Alzheimers disease | Protein interaction | Bioinformatics | Genotypes | Immune system | Biological Sciences | Naturvetenskap | Natural Sciences | Biologiska vetenskaper
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5. Full Text iTalian RegIstry of doUble inner branch stent graft for arch PatHology (the TRIUmPH Registry)
by Ferrer, Ciro, MD and Cao, Piergiorgio, MD, FRCS and Coscarella, Carlo, MD and Ferri, Michelangelo, MD and Lovato, Luigi, MD and Camparini, Stefano, MD and di Marzo, Luca, MD and TRIUmPH Registry Investigators
Journal of Vascular Surgery, ISSN 0741-5214, 2019, Volume 70, Issue 3, pp. 672 - 682.e1
AbstractObjectiveThe objective of this study was to assess early and midterm results after endovascular aortic arch repair using a double inner branch stent... 
Surgery | Endovascular aortic arch repair | Thoracic endovascular aortic repair | Inner branch stent graft | Thoracic stent graft | Aortic arch | SURGERY | ENDOVASCULAR AORTIC REPAIR | FROZEN ELEPHANT TRUNK | PERIPHERAL VASCULAR DISEASE | ANEURYSM | Aneurysms | Health aspects | Analysis | Mortality | Stent (Surgery)
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6. Full Text Serological and experimental studies in different forms of myasthenia gravis
by Vincent, Angela and Huda, Saif and Cao, Michelangelo and Cetin, Hakan and Koneczny, Inga and Rodriguez‐Cruz, Pedro and Jacobson, Leslie and Viegas, Stuart and Jacob, Saiju and Woodhall, Mark and Nagaishi, Akiko and Maniaol, Angelina and Damato, Valentina and Leite, M. Isabel and Cossins, Judith and Webster, Richard and Palace, Jacqueline and Beeson, David
Annals of the New York Academy of Sciences, ISSN 0077-8923, 02/2018, Volume 1413, Issue 1, pp. 143 - 153
Antibodies to the acetylcholine receptor (AChR) have been recognized for over 40 years and have been important in the diagnosis of myasthenia gravis (MG), and... 
myasthenia gravis | muscle‐specific kinase | clustered acetylcholine receptor | active and passive immunization | low‐density lipoprotein receptor–related protein 4 | low-density lipoprotein receptor–related protein 4 | muscle-specific kinase | MUSK ANTIBODIES | TYROSINE PHOSPHATASE | FAB-ARM EXCHANGE | IMMUNE-COMPLEXES IGG | GENERALIZED MYASTHENIA | MULTIDISCIPLINARY SCIENCES | ACETYLCHOLINE-RECEPTOR-ANTIBODY | CLINICAL CHARACTERISTICS | PASSIVE-TRANSFER | low-density lipoprotein receptor-related protein 4 | NEUROMUSCULAR-JUNCTION | Autoantibodies - immunology | Myasthenia Gravis - classification | Immunoglobulin G - immunology | Humans | Agrin - immunology | Receptor Protein-Tyrosine Kinases - immunology | Receptors, Cholinergic - immunology | Myasthenia Gravis - immunology | Kv1.4 Potassium Channel - immunology | LDL-Receptor Related Proteins - immunology | Autoimmunity | Myasthenia gravis | Low density lipoproteins | Immunoglobulin G | Immunoglobulins | Autoantibodies | Connectin | Thymoma | Antibodies | Muscles | Patients | Subgroups | Thymus | Historical account | Agrin | MUSK protein | Acetylcholine receptors | Biomarkers | Neuromuscular junctions | Receptor density | Bioindicators | Myasthenia | In vivo methods and tests
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7. Full Text Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A beta, tau, immunity and lipid processing
by Kunkle, BW and Grenier-Boley, B and Sims, R and Bis, JC and Damotte, V and Naj, AC and Boland, A and Vronskaya, M and van der Lee, SJ and Amlie-Wolf, A and Bellenguez, C and Frizatti, A and Chouraki, V and Martin, ER and Sleegers, K and Badarinarayan, N and Jakobsdottir, J and Hamilton-Nelson, KL and Moreno-Grau, S and Olaso, R and Raybould, R and Chen, YN and Kuzma, AB and Hiltunen, M and Morgan, T and Ahmad, S and Vardarajan, BN and Epelbaum, J and Hoffmann, P and Boada, M and Beecham, GW and Garnier, JG and Harold, D and Fitzpatrick, AL and Valladares, O and Moutet, ML and Gerrish, A and Smith, AV and Qu, LM and Bacq, D and Denning, N and Jian, XQ and Zhao, Y and Del Zompo, M and Fox, NC and Choi, SH and Mateo, I and Hughes, JT and Adams, HH and Malamon, J and Sanchez-Garcia, F and Patel, Y and Brody, JA and Dombroski, BA and Naranjo, MCD and Daniilidou, M and Eiriksdottir, G and Mukherjee, S and Wallon, D and Uphill, J and Aspelund, T and Cantwell, LB and Garzia, F and Galimberti, D and Hofer, E and Butkiewicz, M and Fin, B and Scarpini, E and Sarnowski, C and Bush, WS and Meslage, S and Kornhuber, J and White, CC and Song, Y and Barber, RC and Engelborghs, S and Sordon, S and Voijnovic, D and Adams, PM and Vandenberghe, R and Mayhaus, M and Cupples, LA and Albert, MS and De Deyn, PP and Gu, W and Himali, JJ and Beekly, D and Squassina, A and Hartmann, AM and Orellana, A and Blacker, D and Rodriguez-Rodriguez, E and Lovestone, S and Garcia, ME and Doody, RS and Munoz-Fernadez, C and Sussams, R and Lin, HH and Fairchild, TJ and Benito, YA and ... and Cohorts Heart Aging Res Genomic Ep and Alzheimer Dis Genetics Consortium and European Alzheimers Dis Initiative and Genetic Environm Risk AD Defining and Alzheimer Disease Genetics Consortium (ADGC) and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE) and European Alzheimer’s Disease Initiative (EADI) and Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES)
NATURE GENETICS, ISSN 1061-4036, 03/2019, Volume 51, Issue 3, pp. 414 - 414
Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large... 
COMMON VARIANTS | GENOTYPE IMPUTATION | AMYLOID-BETA | GENETICS & HEREDITY | DOMAIN-CONTAINING OXIDOREDUCTASE | MUTATIONS | ANGIOTENSIN-CONVERTING ENZYME | TRANSCRIPTION FACTOR | ONSET | GENOME-WIDE ASSOCIATION | APOLIPOPROTEIN-E | Genetic Predisposition to Disease - genetics | Lipids - genetics | Humans | Genetic Loci - genetics | Male | Genetic Testing - methods | Case-Control Studies | Haplotypes - genetics | tau Proteins - genetics | Amyloid beta-Peptides - genetics | Female | Lipid Metabolism - genetics | Aged | Alzheimer Disease - genetics | Genome-Wide Association Study - methods | Immunity - genetics | Ontology | Genomics | Genes | Lipids | Genomes | Mapping | Family medical history | Immunity | Risk factors | Protein turnover | Datasets | Proteins | Consortia | Genetic analysis | Dementia disorders | Genetics | Lipid metabolism | Alzheimer's disease | Age | ADAMTS-1 protein | Neurodegenerative diseases | Health risks | Metabolism | Risk analysis | Amyloid precursor protein | Meta-analysis | White blood cells | Genetic variance | Tau protein | Histocompatibility antigen HLA | Gene loci | Gene mapping | Alzheimers disease | Secretase | Dementia | Index Medicus
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8. Full Text Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling
by Scionti, Isabella and Fabbri, Greta and Fiorillo, Chiara and Ricci, Giulia and Greco, Francesca and D'Amico, Roberto and Termanini, Alberto and Vercelli, Liliana and Tomelleri, Giuliano and Cao, Michelangelo and Santoro, Lucio and Percesepe, Antonio and Tupler, Rossella
Journal of Medical Genetics, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 171 - 178
Background Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disease with a prevalence of 1 in 20 000. Almost all patients with... 
MOLECULAR DIAGNOSIS | D4Z4 | 4Q35 | GENETICS & HEREDITY | FSHD | PHENOTYPE | DOMINANT | DNA REARRANGEMENTS | LOCUS | DELETIONS | D4F104S1 | Haplotypes | Sequence Deletion | Genetic Association Studies | Gene Frequency | Humans | Middle Aged | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Tandem Repeat Sequences | Genetic Counseling | Chromosomes, Human, Pair 4 | Young Adult | DNA Mutational Analysis | Pedigree | Adolescent | Aged, 80 and over | Adult | Female | Heterozygote | Aged | Child
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