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Results 1 - 20 of 285  for Central Connecticut State University

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1
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
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Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

Zech, Michael ; Boesch, Sylvia ; Maier, Esther M ; Borggraefe, Ingo ; Vill, Katharina ; Laccone, Franco ; Pilshofer, Veronika ; Ceballos-Baumann, Andres ; Alhaddad, Bader ; Berutti, Riccardo ; Poewe, Werner ; Haack, Tobias B ; Haslinger, Bernhard ; Strom, Tim M ; Winkelmann, Juliane

American journal of human genetics, 2016-12-01, Vol.99 (6), p.1377-1387 [Peer Reviewed Journal]

United States: Elsevier Inc

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2
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
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Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

Aneichyk, Tatsiana ; Hendriks, William T ; Yadav, Rachita ; Shin, David ; Gao, Dadi ; Vaine, Christine A ; Collins, Ryan L ; Domingo, Aloysius ; Currall, Benjamin ; Stortchevoi, Alexei ; Multhaupt-Buell, Trisha ; Penney, Ellen B ; Cruz, Lilian ; Dhakal, Jyotsna ; Brand, Harrison ; Hanscom, Carrie ; Antolik, Caroline ; Dy, Marisela ; Ragavendran, Ashok ; Underwood, Jason ; Cantsilieris, Stuart ; Munson, Katherine M ; Eichler, Evan E ; Acuña, Patrick ; Go, Criscely ; Jamora, R. Dominic G ; Rosales, Raymond L ; Church, Deanna M ; Williams, Stephen R ; Garcia, Sarah ; Klein, Christine ; Müller, Ulrich ; Wilhelmsen, Kirk C ; Timmers, H. T. Marc ; Sapir, Yechiam ; Wainger, Brian J ; Henderson, Daniel ; Ito, Naoto ; Weisenfeld, Neil ; Jaffe, David ; Sharma, Nutan ; Breakefield, Xandra O ; Ozelius, Laurie J ; Bragg, D. Cristopher ; Talkowski, Michael E

Cell (Cambridge), 2018-02-22, Vol.172 (5), p.897-909.e21 [Peer Reviewed Journal]

United States: Elsevier Inc

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3
The expanding clinical and genetic spectrum of ATP1A3-related disorders
The expanding clinical and genetic spectrum of ATP1A3-related disorders
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The expanding clinical and genetic spectrum of ATP1A3-related disorders

Rosewich, Hendrik ; Ohlenbusch, Andreas ; Huppke, Peter ; Schlotawa, Lars ; Baethmann, Martina ; Carrilho, Inês ; Fiori, Simona ; Lourenço, Charles Marques ; Sawyer, Sarah ; Steinfeld, Robert ; Gärtner, Jutta ; Brockmann, Knut

Neurology, 2014-03-18, Vol.82 (11), p.945-955 [Peer Reviewed Journal]

Hagerstown, MD: American Academy of Neurology

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4
Early-onset oromandibular-laryngeal dystonia and Charlot gait: New phenotype of DYT-KMT2B
Early-onset oromandibular-laryngeal dystonia and Charlot gait: New phenotype of DYT-KMT2B
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Early-onset oromandibular-laryngeal dystonia and Charlot gait: New phenotype of DYT-KMT2B

Brás, Ana ; Ribeiro, Joana Afonso ; Sobral, Filipe ; Moreira, Fradique ; Morgadinho, Ana ; Januário, Cristina

Neurology, 2019-05-07, Vol.92 (19), p.919-919 [Peer Reviewed Journal]

United States: American Academy of Neurology

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5
Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia
Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia
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Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Zech, Michael ; Lam, Daniel D ; Francescatto, Ludmila ; Schormair, Barbara ; Salminen, Aaro V ; Jochim, Angela ; Wieland, Thomas ; Lichtner, Peter ; Peters, Annette ; Gieger, Christian ; Lochmüller, Hanns ; Strom, Tim M ; Haslinger, Bernhard ; Katsanis, Nicholas ; Winkelmann, Juliane

American journal of human genetics, 2015-06-04, Vol.96 (6), p.883-893 [Peer Reviewed Journal]

United States: Elsevier Inc

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6
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Mencacci, Niccolo E ; Rubio-Agusti, Ignacio ; Zdebik, Anselm ; Asmus, Friedrich ; Ludtmann, Marthe H.R ; Ryten, Mina ; Plagnol, Vincent ; Hauser, Ann-Kathrin ; Bandres-Ciga, Sara ; Bettencourt, Conceição ; Forabosco, Paola ; Hughes, Deborah ; Soutar, Marc M.P ; Peall, Kathryn ; Morris, Huw R ; Trabzuni, Daniah ; Tekman, Mehmet ; Stanescu, Horia C ; Kleta, Robert ; Carecchio, Miryam ; Zorzi, Giovanna ; Nardocci, Nardo ; Garavaglia, Barbara ; Lohmann, Ebba ; Weissbach, Anne ; Klein, Christine ; Hardy, John ; Pittman, Alan M ; Foltynie, Thomas ; Abramov, Andrey Y ; Gasser, Thomas ; Bhatia, Kailash P ; Wood, Nicholas W

American journal of human genetics, 2015-06-04, Vol.96 (6), p.938-947 [Peer Reviewed Journal]

United States: Elsevier Inc

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7
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome
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CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

Groen, Justus L ; Anade, Arturo ; Ritz, Katja ; Jalalzadeh, Hamid ; Haagmans, Martin ; Bradley, Ted E. J ; Jongejan, Aldo ; Verbeek, Dineke S ; Nürnberg, Peter ; Denome, Sylvia ; Hennekam, Raoul C. M ; Lipscombe, Diane ; Baas, Frank ; Tijssen, Marina A. J

Human molecular genetics, 2015, Vol.24 (4), p.987-993 [Peer Reviewed Journal]

England: Oxford University Press

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8
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
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Role of Gα(olf) in familial and sporadic adult-onset primary dystonia

Vemula, Satya R ; Puschmann, Andreas ; Xiao, Jianfeng ; Zhao, Yu ; Rudzińska, Monika ; Frei, Karen P ; Truong, Daniel D ; Wszolek, Zbigniew K ; LeDoux, Mark S

Human molecular genetics, 2013-06-15, Vol.22 (12), p.2510-2519 [Peer Reviewed Journal]

England: Oxford University Press

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9
Evolving concepts in the pathogenesis of dystonia
Evolving concepts in the pathogenesis of dystonia
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Evolving concepts in the pathogenesis of dystonia

Jinnah, H.A ; Hess, Ellen J

Parkinsonism & related disorders, 2018-01, Vol.46 (Suppl 1), p.S62-S65 [Peer Reviewed Journal]

England: Elsevier Ltd

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10
The neural substrates of rapid-onset Dystonia-Parkinsonism
The neural substrates of rapid-onset Dystonia-Parkinsonism
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The neural substrates of rapid-onset Dystonia-Parkinsonism

Calderon, D Paola ; Khodakhah, Kamran ; Fremont, Rachel ; Kraenzlin, Franca

Nature neuroscience, 2011-03, Vol.14 (3), p.357-365 [Peer Reviewed Journal]

United States: Nature Publishing Group

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11
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations
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Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

Paisán-Ruiz, Coro ; Li, Abi ; Schneider, Susanne A ; Holton, Janice L ; Johnson, Robert ; Kidd, Desmond ; Chataway, Jeremy ; Bhatia, Kailash P ; Lees, Andrew J ; Hardy, John ; Revesz, Tamas ; Houlden, Henry

Neurobiology of aging, 2012, Vol.33 (4), p.814-823 [Peer Reviewed Journal]

United States: Elsevier Inc

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12
The monogenic primary dystonias
The monogenic primary dystonias
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The monogenic primary dystonias

Müller, Ulrich

Brain (London, England : 1878), 2009-08, Vol.132 (8), p.2005-2025 [Peer Reviewed Journal]

England: Oxford University Press

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13
Advances in molecular and cell biology of dystonia: Focus on torsinA
Advances in molecular and cell biology of dystonia: Focus on torsinA
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Advances in molecular and cell biology of dystonia: Focus on torsinA

Gonzalez-Alegre, Pedro

Neurobiology of disease, 2019-07, Vol.127, p.233-241 [Peer Reviewed Journal]

United States: Elsevier Inc

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14
Dystonia genes and their biological pathways
Dystonia genes and their biological pathways
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Dystonia genes and their biological pathways

Jinnah, H.A ; Sun, Yan V

Neurobiology of disease, 2019-09, Vol.129, p.159-168 [Peer Reviewed Journal]

United States: Elsevier Inc

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15
Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant
Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant
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Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant

Yoo, Dallah ; Kim, Han-Joon ; Lee, Jin Sook ; Lee, Sangmoon ; Kim, Soo Yeon ; Choi, Murim ; Chae, Jong-Hee ; Jeon, Beomseok

Parkinsonism & related disorders, 2018-05, Vol.50, p.124-125 [Peer Reviewed Journal]

England: Elsevier Ltd

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16
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Heimer, Gali ; Kerätär, Juha M ; Riley, Lisa G ; Balasubramaniam, Shanti ; Eyal, Eran ; Pietikäinen, Laura P ; Hiltunen, J. Kalervo ; Marek-Yagel, Dina ; Hamada, Jeffrey ; Gregory, Allison ; Rogers, Caleb ; Hogarth, Penelope ; Nance, Martha A ; Shalva, Nechama ; Veber, Alvit ; Tzadok, Michal ; Nissenkorn, Andreea ; Tonduti, Davide ; Renaldo, Florence ; Bamshad, Michael J ; Leal, Suzanne M ; Nickerson, Deborah A ; Anderson, Peter ; Annable, Marcus ; Blue, Elizabeth Marchani ; Buckingham, Kati J ; Chin, Jennifer ; Chong, Jessica X ; Cornejo, Rodolfo ; Davis, Colleen P ; Frazar, Christopher ; He, Zongxiao ; Jarvik, Gail P ; Jimenez, Guillaume ; Johanson, Eric ; Kolar, Tom ; Krauter, Stephanie A ; Luksic, Daniel ; Marvin, Colby T ; McGee, Sean ; McGoldrick, Daniel J ; Patterson, Karynne ; Perez, Marcos ; Phillips, Sam W ; Pijoan, Jessica ; Robertson, Peggy D ; Santos-Cortez, Regie ; Shankar, Aditi ; Slattery, Krystal ; Shively, Kathryn M ; Siegel, Deborah L ; Smith, Joshua D ; Tackett, Monica ; Wang, Gao ; Wegener, Marc ; Weiss, Jeffrey M ; Wernick, Riana I ; Wheeler, Marsha M ; Yi, Qian ; Kraoua, Ichraf ; Panteghini, Celeste ; Valletta, Lorella ; Garavaglia, Barbara ; Cowley, Mark J ; Gayevskiy, Velimir ; Roscioli, Tony ; Silberstein, Jonathon M ; Hoffmann, Chen ; Raas-Rothschild, Annick ; Tiranti, Valeria ; Anikster, Yair ; Christodoulou, John ; Kastaniotis, Alexander J ; Ben-Zeev, Bruria ; Hayflick, Susan J

American journal of human genetics, 2016-12-01, Vol.99 (6), p.1229-1244 [Peer Reviewed Journal]

United States: Elsevier Inc

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17
Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging
Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging
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Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging

Niethammer, Martin ; Carbon, Maren ; Argyelan, Miklos ; Eidelberg, David

Neurobiology of disease, 2010, Vol.42 (2), p.202-209 [Peer Reviewed Journal]

United States: Elsevier Inc

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18
Abnormal plasticity in dystonia: Disruption of synaptic homeostasis
Abnormal plasticity in dystonia: Disruption of synaptic homeostasis
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Abnormal plasticity in dystonia: Disruption of synaptic homeostasis

Quartarone, Angelo ; Pisani, Antonio

Neurobiology of disease, 2010, Vol.42 (2), p.162-170 [Peer Reviewed Journal]

United States: Elsevier Inc

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19
Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism
Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism
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Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism

Hernández, Ivó H ; Cabrera, Jorge R ; Santos-Galindo, María ; Sánchez-Martín, Manuel ; Domínguez, Verónica ; García-Escudero, Ramón ; Pérez-Álvarez, María J ; Pintado, Belén ; Lucas, José J

Brain (London, England : 1878), 2020-07-01, Vol.143 (7), p.2207-2219 [Peer Reviewed Journal]

England: Oxford University Press

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20
Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation
Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation
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Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation

Dean, Marissa ; Messiaen, Ludwine ; Cooper, Gregory M ; Amaral, Michelle D ; Rashid, Salman ; Korf, Bruce R ; Standaert, David G

Neurology, 2019-09-10, Vol.93 (11), p.510-514 [Peer Reviewed Journal]

United States: American Academy of Neurology

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