The metabolism of the developing brain : How large neutral amino acids modulate perinatal neuronal excitability and survival
L. Knaus, The Metabolism of the Developing Brainf: How Large Neutral Amino Acids Modulate Perinatal Neuronal Excitability and Survival, Institute of Science and Technology Austria, 2023.
LibreCat: https://research-explorer.ista.ac.at/record/13107
DOI: 10.15479/at:ista:13107

Large neutral amino acid levels tune perinatal neuronal excitability and survival
L. Knaus, B. Basilico, D. Malzl, M. Gerykova Bujalkova, M. Smogavec, L.A. Schwarz, S. Gorkiewicz, N. Amberg, F. Pauler, C. Knittl-Frank, M. Tassinari, N. Maulide, T. Rülicke, J. Menche, S. Hippenmeyer, G. Novarino, Cell 186 (2023) 1950–1967.e25.
LibreCat: https://research-explorer.ista.ac.at/record/12802
DOI: 10.1016/j.cell.2023.02.037
WoS: 000991468700001

Imaging brain tissue architecture across millimeter to nanometer scales
J.M. Michalska, J. Lyudchik, P. Velicky, H. Korinkova, J. Watson, A. Cenameri, C.M. Sommer, N. Amberg, A. Venturino, K. Roessler, T. Czech, R. Höftberger, S. Siegert, G. Novarino, P.M. Jonas, J.G. Danzl, Nature Biotechnology (2023).
LibreCat: https://research-explorer.ista.ac.at/record/14257
DOI: 10.1038/s41587-023-01911-8
WoS: 001065254200001

What microglia depletion approaches tell us about the role of microglia on synaptic function and behavior
B. Basilico, L. Ferrucci, A. Khan, S. Di Angelantonio, D. Ragozzino, I. Reverte, Frontiers in Cellular Neuroscience 16 (2022).
LibreCat: https://research-explorer.ista.ac.at/record/12140
DOI: 10.3389/fncel.2022.1022431
WoS: 000886526600001
PMID: 36406752

Phenotypic and genetic spectrum of ATA encephalopathy: A disorder of lysosomal homeostasis
R. Guerrini, D. Mei, M.K. Szigeti, S. Pepe, M.K. Koenig, G. Von Allmen, M.T. Cho, K. McDonald, J. Baker, V. Bhambhani, Z. Powis, L. Rodan, R. Nabbout, G. Barcia, J.A. Rosenfeld, C.A. Bacino, C. Mignot, L.H. Power, C.J. Harris, D. Marjanovic, R.S. Møller, T.B. Hammer, R. Keski Filppula, P. Vieira, C. Hildebrandt, S. Sacharow, L. Maragliano, F. Benfenati, K. Lachlan, A. Benneche, F. Petit, J.M. de Sainte Agathe, B. Hallinan, Y. Si, I.M. Wentzensen, F. Zou, V. Narayanan, N. Matsumoto, A. Boncristiano, G. la Marca, M. Kato, K. Anderson, C. Barba, L. Sturiale, D. Garozzo, R. Bei, L. Masuelli, V. Conti, G. Novarino, A. Fassio, Brain 145 (2022) 2687–2703.
LibreCat: https://research-explorer.ista.ac.at/record/12174
DOI: 10.1093/brain/awac145
WoS: 000807770000001

Substrate stiffness effect on molecular crosstalk of epithelial-mesenchymal transition mediators of human glioblastoma cells
B. Basilico, I.E. Palamà, S. D’Amone, C. Lauro, M. Rosito, M. Grieco, P. Ratano, F. Cordella, C. Sanchini, S. Di Angelantonio, D. Ragozzino, M. Cascione, G. Gigli, B. Cortese, Frontiers in Oncology 12 (2022).
LibreCat: https://research-explorer.ista.ac.at/record/12268
DOI: 10.3389/fonc.2022.983507
WoS: 000856524900001
PMID: 36091138

Microglia control glutamatergic synapses in the adult mouse hippocampus
B. Basilico, L. Ferrucci, P. Ratano, M.T. Golia, A. Grimaldi, M. Rosito, V. Ferretti, I. Reverte, C. Sanchini, M.C. Marrone, M. Giubettini, V. De Turris, D. Salerno, S. Garofalo, M. StPierre, M. Carrier, M. Renzi, F. Pagani, B. Modi, M. Raspa, F. Scavizzi, C.T. Gross, S. Marinelli, M. Tremblay, D. Caprioli, L. Maggi, C. Limatola, S. Di Angelantonio, D. Ragozzino, Glia 70 (2022) 173–195.
LibreCat: https://research-explorer.ista.ac.at/record/10818
DOI: 10.1002/glia.24101
WoS: 000708025800001
PMID: 34661306

CH haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories
C.E. Villa, C. Cheroni, C. Dotter, A. López-Tóbon, B. Oliveira, R. Sacco, A.Ç. Yahya, J. Morandell, M. Gabriele, M. Tavakoli, J. Lyudchik, C.M. Sommer, M. Gabitto, J.G. Danzl, G. Testa, G. Novarino, Cell Reports 39 (2022).
LibreCat: https://research-explorer.ista.ac.at/record/11160
DOI: 10.1016/j.celrep.2022.110615
WoS: 000785983900003
PMID: 35385734

Transcriptional consequences of mutations in genes associated with Autism Spectrum Disorder
C. Dotter, Transcriptional Consequences of Mutations in Genes Associated with Autism Spectrum Disorder, Institute of Science and Technology Austria, 2022.
LibreCat: https://research-explorer.ista.ac.at/record/12364
DOI: 10.15479/at:ista:12094

Saturated reconstruction of living brain tissue
P. Velicky, E. Miguel Villalba, J.M. Michalska, D. Wei, Z. Lin, J. Watson, J. Troidl, J. Beyer, Y. Ben Simon, C.M. Sommer, W. Jahr, A. Cenameri, J. Broichhagen, S.G.N. Grant, P.M. Jonas, G. Novarino, H. Pfister, B. Bickel, J.G. Danzl, BioRxiv (n.d.).
LibreCat: https://research-explorer.ista.ac.at/record/11943
DOI: 10.1101/2022.03.16.484431

Uncovering brain tissue architecture across scales with super-resolution light microscopy
J.M. Michalska, J. Lyudchik, P. Velicky, H. Korinkova, J. Watson, A. Cenameri, C.M. Sommer, A. Venturino, K. Roessler, T. Czech, S. Siegert, G. Novarino, P.M. Jonas, J.G. Danzl, BioRxiv (n.d.).
LibreCat: https://research-explorer.ista.ac.at/record/11950
DOI: 10.1101/2022.08.17.504272

Translating the role of mtor-and ras-associated signalopathies in autism spectrum disorder: Models, mechanisms and treatment
V. Vasic, M.S.O. Jones, D. Haslinger, L. Knaus, M.J. Schmeisser, G. Novarino, A.G. Chiocchetti, Genes 12 (2021).
LibreCat: https://research-explorer.ista.ac.at/record/10281
DOI: 10.3390/genes12111746
WoS: 000834044200002

Control of protein synthesis and memory by GluN3A-NMDA receptors through inhibition of GI/mTOR assembly
M.J. Conde-Dusman, P.N. Dey, Ó. Elía-Zudaire, L.E. Garcia Rabaneda, C. García-Lira, T. Grand, V. Briz, E.R. Velasco, R. Andero Galí, S. Niñerola, A. Barco, P. Paoletti, J.F. Wesseling, F. Gardoni, S.J. Tavalin, I. Perez-Otaño, ELife 10 (2021).
LibreCat: https://research-explorer.ista.ac.at/record/10301
DOI: 10.7554/elife.71575
WoS: 000720945900001

Microglial-glucocorticoid receptor depletion alters the response of hippocampal microglia and neurons in a chronic unpredictable mild stress paradigm in female mice
K. Picard, K. Bisht, S. Poggini, S. Garofalo, M.T. Golia, B. Basilico, F. Abdallah, N. Ciano Albanese, I. Amrein, N. Vernoux, K. Sharma, C.W. Hui, J. C. Savage, C. Limatola, D. Ragozzino, L. Maggi, I. Branchi, M.È. Tremblay, Brain, Behavior, and Immunity 97 (2021) 423–439.
LibreCat: https://research-explorer.ista.ac.at/record/9953
DOI: 10.1016/j.bbi.2021.07.022
WoS: 000702878400007
PMID: 34343616

Complete inhibition of ABC and ABC at the blood-brain barrier by co-infusion of erlotinib and tariquidar to improve brain delivery of the model ABC/ABC substrate [11C]erlotinib
N. Tournier, S. Goutal, S. Mairinger, I. Lozano, T. Filip, M. Sauberer, F. Caillé, L. Breuil, J. Stanek, A. Freeman, G. Novarino, C. Truillet, T. Wanek, O. Langer, Journal of Cerebral Blood Flow and Metabolism 41 (2021) 1634–1646.
LibreCat: https://research-explorer.ista.ac.at/record/8730
DOI: 10.1177/0271678X20965500
WoS: 000664214100012
PMID: 33081568

Antibiotics treatment modulates microglia–synapses interaction
F. Cordella, C. Sanchini, M. Rosito, L. Ferrucci, N. Pediconi, B. Cortese, F. Guerrieri, G.R. Pascucci, F. Antonangeli, G. Peruzzi, M. Giubettini, B. Basilico, F. Pagani, A. Grimaldi, G. D’Alessandro, C. Limatola, D. Ragozzino, S. Di Angelantonio, Cells 10 (2021).
LibreCat: https://research-explorer.ista.ac.at/record/15278
DOI: 10.3390/cells10102648
PMID: 34685628

Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development
J. Morandell, L.A. Schwarz, B. Basilico, S. Tasciyan, G.A. Dimchev, A. Nicolas, C.M. Sommer, C. Kreuzinger, C. Dotter, L. Knaus, Z. Dobler, E. Cacci, F.K. Schur, J.G. Danzl, G. Novarino, Nature Communications 12 (2021).
LibreCat: https://research-explorer.ista.ac.at/record/9429
DOI: 10.1038/s41467-021-23123-x
WoS: 000658769900010

Chromatinopathies: A focus on Cornelia de Lange syndrome
L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede, C. Parodi, M. Mariani, F.J. Kaiser, A. Selicorni, C. Gervasini, V. Massa, Clinical Genetics 97 (2020) 3–11.
LibreCat: https://research-explorer.ista.ac.at/record/7149
DOI: 10.1111/cge.13674
WoS: 000562561800001
PMID: 31721174

Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes
A. Latorre-Pellicer, Á. Ascaso, L. Trujillano, M. Gil-Salvador, M. Arnedo, C. Lucia-Campos, R. Antoñanzas-Pérez, I. Marcos-Alcalde, I. Parenti, G. Bueno-Lozano, A. Musio, B. Puisac, F.J. Kaiser, F.J. Ramos, P. Gómez-Puertas, J. Pié, International Journal of Molecular Sciences 21 (2020).
LibreCat: https://research-explorer.ista.ac.at/record/7488
DOI: 10.3390/ijms21031042
WoS: 000522551606028

Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration
S. Weinert, N. Gimber, D. Deuschel, T. Stuhlmann, D. Puchkov, Z. Farsi, C.F. Ludwig, G. Novarino, K.I. López-Cayuqueo, R. Planells-Cases, T.J. Jentsch, EMBO Journal 39 (2020).
LibreCat: https://research-explorer.ista.ac.at/record/7586
DOI: 10.15252/embj.2019103358
WoS: 000517335000001
PMID: 32118314

MA and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome
I. Parenti, F. Diab, S.R. Gil, E. Mulugeta, V. Casa, R. Berutti, R.W.W. Brouwer, V. Dupé, J. Eckhold, E. Graf, B. Puisac, F. Ramos, T. Schwarzmayr, M.M. Gines, T. Van Staveren, W.F.J. Van Ijcken, T.M. Strom, J. Pié, E. Watrin, F.J. Kaiser, K.S. Wendt, Cell Reports 31 (2020).
LibreCat: https://research-explorer.ista.ac.at/record/7877
DOI: 10.1016/j.celrep.2020.107647
WoS: 000535655200005

Neurodevelopmental disorders: From genetics to functional pathways
I. Parenti, L.E. Garcia Rabaneda, H. Schön, G. Novarino, Trends in Neurosciences 43 (2020) 608–621.
LibreCat: https://research-explorer.ista.ac.at/record/7957
DOI: 10.1016/j.tins.2020.05.004
WoS: 000553090600008
PMID: 32507511

Illuminating the role of Cul3 in autism spectrum disorder pathogenesis
J. Morandell, Illuminating the Role of Cul3 in Autism Spectrum Disorder Pathogenesis, Institute of Science and Technology Austria, 2020.
LibreCat: https://research-explorer.ista.ac.at/record/8620
DOI: 10.15479/AT:ISTA:8620

Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development
J. Morandell, L.A. Schwarz, B. Basilico, S. Tasciyan, A. Nicolas, C.M. Sommer, C. Kreuzinger, L. Knaus, Z. Dobler, E. Cacci, J.G. Danzl, G. Novarino, BioRxiv (n.d.).
LibreCat: https://research-explorer.ista.ac.at/record/7800
DOI: 10.1101/2020.01.10.902064 

Molecular mechanisms for targeted ASD treatments
B. Basilico, J. Morandell, G. Novarino, Current Opinion in Genetics and Development 65 (2020) 126–137.
LibreCat: https://research-explorer.ista.ac.at/record/8131
DOI: 10.1016/j.gde.2020.06.004
WoS: 000598918900019
PMID: 32659636

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63
A. Marsh, G. Novarino, P. Lockhart, R. Leventer, European Journal of Human Genetics 27 (2019) 161–166.
LibreCat: https://research-explorer.ista.ac.at/record/105
DOI: 10.1038/s41431-018-0231-2
WoS: 000454111500019
PMID: 30089829

Inhibition of ABC and ABC at the mouse blood-brain barrier with marketed drugs to improve brain delivery of the model ABC/ABC substrate [11C]erlotinib
A. Traxl, S. Mairinger, T. Filip, M. Sauberer, J. Stanek, S. Poschner, W. Jäger, V. Zoufal, G. Novarino, N. Tournier, M. Bauer, T. Wanek, O. Langer, Molecular Pharmaceutics 16 (2019) 1282–1293.
LibreCat: https://research-explorer.ista.ac.at/record/6088
DOI: 10.1021/acs.molpharmaceut.8b01217
WoS: 000460600400031
PMID: 30694684

Improved spike inference accuracy by estimating the peak amplitude of unitary [C+] transients in weakly GCaMf-expressing hippocampal pyramidal cells
T. Éltes, M. Szoboszlay, M.K. Szigeti, Z. Nusser, Journal of Physiology 597 (2019) 2925–2947.
LibreCat: https://research-explorer.ista.ac.at/record/6470
DOI: 10.1113/JP277681
WoS: 000470780400013
PMID: 31006863

Modeling cell-cell interactions in the brain using cerebral organoids
B. Oliveira, A.Ç. Yahya, G. Novarino, Brain Research 1724 (2019).
LibreCat: https://research-explorer.ista.ac.at/record/6896
DOI: 10.1016/j.brainres.2019.146458
WoS: 000491646600033
PMID: 31521639

S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism
J. Morandell, A. Nicolas, L.A. Schwarz, G. Novarino, European Neuropsychopharmacology 29 (2019) –.
LibreCat: https://research-explorer.ista.ac.at/record/7415
DOI: 10.1016/j.euroneuro.2019.09.040
WoS: 000502657500021

S.16.03 A homozygous missense mutation in SL leads to autism spectrum disorder and microcephaly
L. Knaus, D.-C. Tarlungeanu, G. Novarino, European Neuropsychopharmacology 29 (2019) .
LibreCat: https://research-explorer.ista.ac.at/record/7414
DOI: 10.1016/j.euroneuro.2019.09.039
WoS: 000502657500020

Zika-associated microcephaly: Reduce the stress and race for the treatment
G. Novarino, Science Translational Medicine 10 (2018).
LibreCat: https://research-explorer.ista.ac.at/record/456
DOI: 10.1126/scitranslmed.aar7514

Genomics in neurodevelopmental disorders: an avenue to personalized medicine
D.-C. Tarlungeanu, G. Novarino, Experimental &; Molecular Medicine 50 (2018).
LibreCat: https://research-explorer.ista.ac.at/record/5888
DOI: 10.1038/s12276-018-0129-7
WoS: 000441266700006
PMID: 30089840

Neural stem cells in neuropsychiatric disorders
R. Sacco, E. Cacci, G. Novarino, Current Opinion in Neurobiology 48 (2018) 131–138.
LibreCat: https://research-explorer.ista.ac.at/record/546
DOI: 10.1016/j.conb.2017.12.005
WoS: 000427101600018

A homozygous founder mutation in TRAPPB associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features
I. Marin Valencia, G. Novarino, A. Johansen, B. Rosti, M. Issa, D. Musaev, G. Bhat, E. Scott, J. Silhavy, V. Stanley, R. Rosti, J. Gleeson, F. Imam, M. Zaki, J. Gleeson, Journal of Medical Genetics 55 (2018) 48–54.
LibreCat: https://research-explorer.ista.ac.at/record/691
DOI: 10.1136/jmedgenet-2017-104627
WoS: 000418199800007
PMID: 28626029

The branched chain amino acids in autism spectrum disorders 
D.-C. Tarlungeanu, The Branched Chain Amino Acids in Autism Spectrum Disorders , Institute of Science and Technology Austria, 2018.
LibreCat: https://research-explorer.ista.ac.at/record/395
DOI: 10.15479/AT:ISTA:th_992

Haploinsufficiency of the intellectual disability gene SET disturbs developmental gene expression and cognition
E. Deliu, N. Arecco, J. Morandell, C. Dotter, X. Contreras, C. Girardot, E. Käsper, A. Kozlova, K. Kishi, I. Chiaradia, K. Noh, G. Novarino, Nature Neuroscience 21 (2018) 1717–1727.
LibreCat: https://research-explorer.ista.ac.at/record/3
DOI: 10.1038/s41593-018-0266-2
WoS: 000451324700010

Characterization of host proteins interacting with the lymphocytic choriomeningitis virus L protein
K. Khamina, A. Lercher, M. Caldera, C. Schliehe, B. Vilagos, M. Sahin, L. Kosack, A. Bhattacharya, P. Májek, A. Stukalov, R. Sacco, L. James, D. Pinschewer, K. Bennett, J. Menche, A. Bergthaler, PLoS Pathogens 13 (2017).
LibreCat: https://research-explorer.ista.ac.at/record/540
DOI: 10.1371/journal.ppat.1006758

Extracerebral dysfunction in animal models of autism spectrum disorder
E. Hill Yardin, S. Mckeown, G. Novarino, A. Grabrucker, in:, M. Schmeisser, T. Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum Disorder, Springer, 2017, pp. 159–187.
LibreCat: https://research-explorer.ista.ac.at/record/623
DOI: 10.1007/978-3-319-52498-6_9

Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder
J. Schroeder, E. Deliu, G. Novarino, M. Schmeisser, in:, M. Schmeisser, T. Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum Disorder, Springer, 2017, pp. 189–211.
LibreCat: https://research-explorer.ista.ac.at/record/634
DOI: 10.1007/978-3-319-52498-6_10

Modeling Alzheimer's disease in mice with human neurons
G. Novarino, Science Translational Medicine 9 (2017).
LibreCat: https://research-explorer.ista.ac.at/record/656
DOI: 10.1126/scitranslmed.aam9867

The antisocial side of antibiotics
G. Novarino, Science Translational Medicine 9 (2017).
LibreCat: https://research-explorer.ista.ac.at/record/667
DOI: 10.1126/scitranslmed.aan2786

Rett syndrome modeling goes simian
G. Novarino, Science Translational Medicine 9 (2017).
LibreCat: https://research-explorer.ista.ac.at/record/689
DOI: 10.1126/scitranslmed.aan8196

The riddle of CH haploinsufficiency in autism spectrum disorder
G. Novarino, Science Translational Medicine 9 (2017) eaao0972.
LibreCat: https://research-explorer.ista.ac.at/record/702
DOI: 10.1126/scitranslmed.aao0972

Mapping the mouse Allelome reveals tissue specific regulation of allelic expression
D. Andergassen, C. Dotter, D. Wenzel, V. Sigl, P. Bammer, M. Muckenhuber, D. Mayer, T. Kulinski, H. Theussl, J. Penninger, C. Bock, D. Barlow, F. Pauler, Q. Hudson, ELife 6 (2017).
LibreCat: https://research-explorer.ista.ac.at/record/713
DOI: 10.7554/eLife.25125

HIV Tat excites  receptor-like expressing neurons from rat nucleus accumbens
G. Brailoiu, E. Deliu, J. Barr, L. Console Bram, A. Ciuciu, M. Abood, E. Unterwald, E. Breiloiu, Drug and Alcohol Dependence 178 (2017) 7–14.
LibreCat: https://research-explorer.ista.ac.at/record/714
DOI: 10.1016/j.drugalcdep.2017.04.015
PMID: 28623807

More excitation for Rett syndrome
G. Novarino, Science Translational Medicine 9 (2017).
LibreCat: https://research-explorer.ista.ac.at/record/715
DOI: 10.1126/scitranslmed.aao4218

The science of love in ASD and ADHD
G. Novarino, Science Translational Medicine 9 (2017).
LibreCat: https://research-explorer.ista.ac.at/record/731
DOI: 10.1126/scitranslmed.aap8168

Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence
U. Sauerzopf, R. Sacco, G. Novarino, M. Niello, A. Weidenauer, N. Praschak Rieder, H. Sitte, M. Willeit, European Journal of Neuroscience 45 (2017) 45–57.
LibreCat: https://research-explorer.ista.ac.at/record/1228
DOI: 10.1111/ejn.13418
WoS: 000392487100005
PMID: 27690184

Modulation of cardiac vagal tone by bradykinin acting on nucleus ambiguus
E. Breiloiu, M. Mcguire, S. Shuler, E. Deliu, J. Barr, M. Abood, G. Brailoiu, Neuroscience 365 (2017) 23–32.
LibreCat: https://research-explorer.ista.ac.at/record/747
DOI: 10.1016/j.neuroscience.2017.09.034
WoS: 000415966200003
PMID: 28951324

Long non-coding RNAs display higher natural expression variation than protein-coding genes in healthy humans
A. Kornienko, C. Dotter, P. Guenzl, H. Gisslinger, B. Gisslinger, C. Cleary, R. Kralovics, F. Pauler, D. Barlow, Genome Biology 17 (2016).
LibreCat: https://research-explorer.ista.ac.at/record/1240
DOI: 10.1186/s13059-016-0873-8

Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder
D.-C. Tarlungeanu, E. Deliu, C. Dotter, M. Kara, P. Janiesch, M. Scalise, M. Galluccio, M. Tesulov, E. Morelli, F. Sönmez, K. Bilgüvar, R. Ohgaki, Y. Kanai, A. Johansen, S. Esharif, T. Ben Omran, M. Topcu, A. Schlessinger, C. Indiveri, K. Duncan, A. Caglayan, M. Günel, J. Gleeson, G. Novarino, Cell 167 (2016) 1481–1494.
LibreCat: https://research-explorer.ista.ac.at/record/1183
DOI: 10.1016/j.cell.2016.11.013

Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput sequencing data
D. Andergassen, C. Dotter, T. Kulinski, P. Guenzl, P. Bammer, D. Barlow, F. Pauler, Q. Hudson, Nucleic Acids Research 43 (2015).
LibreCat: https://research-explorer.ista.ac.at/record/1497
DOI: 10.1093/nar/gkv727

Loss-of-function variants of SET cause intellectual disability and the core phenotype of microdeletion 3.3 syndrome
A. Kuechler, A. Zink, T. Wieland, H. Lüdecke, K. Cremer, L. Salviati, P. Magini, K. Najafi, C. Zweier, J. Czeschik, S. Aretz, S. Endele, F. Tamburrino, C. Pinato, M. Clementi, J. Gundlach, C. Maylahn, L. Mazzanti, E. Wohlleber, T. Schwarzmayr, R. Kariminejad, A. Schlessinger, D. Wieczorek, T. Strom, G. Novarino, H. Engels, European Journal of Human Genetics 23 (2015) 753–760.
LibreCat: https://research-explorer.ista.ac.at/record/1789
DOI: 10.1038/ejhg.2014.165
PMID: 25138099

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G. Novarino, A. Fenstermaker, M. Zaki, M. Hofree, J. Silhavy, A. Heiberg, M. Abdellateef, B. Rosti, E. Scott, L. Mansour, A. Masri, H. Kayserili, J. Al Aama, G. Abdel Salam, A. Karminejad, M. Kara, B. Kara, B. Bozorgmehri, T. Ben Omran, F. Mojahedi, I. Mahmoud, N. Bouslam, A. Bouhouche, A. Benomar, S. Hanein, L. Raymond, S. Forlani, M. Mascaro, L. Selim, N. Shehata, N. Al Allawi, P. Bindu, M. Azam, M. Günel, A. Caglayan, K. Bilgüvar, A. Tolun, M. Issa, J. Schroth, E. Spencer, R. Rosti, N. Akizu, K. Vaux, A. Johansen, A. Koh, H. Megahed, A. Dürr, A. Brice, G. Stévanin, S. Gabriel, T. Ideker, J. Gleeson, Science 343 (2014) 506–511.
LibreCat: https://research-explorer.ista.ac.at/record/1916
DOI: 10.1126/science.1247363
PMID: 24482476