Search Results - "Pizoli, Carolyn E."

Resting-state activity in development and maintenance of normal brain function by Pizoli, Carolyn E, Shah, Manish N, Snyder, Abraham Z, Shimony, Joshua S, Limbrick, David D, Raichle, Marcus E, Schlaggar, Bradley L, Smyth, Matthew D

“…One of the most intriguing recent discoveries concerning brain function is that intrinsic neuronal activity manifests as spontaneous fluctuations of the blood…”
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Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1 by Schoch, Kelly, McConkie-Rosell, Allyn, Walley, Nicole, Bhambhani, Vikas, Feyma, Timothy, Pizoli, Carolyn E, Smith, Edward C, Tan, Queenie K.-G, Shashi, Vandana

“…Abstract Background A recurrent de novo variant (c.892C>T) in NACC1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and…”
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Limited regional cerebellar dysfunction induces focal dystonia in mice by Raike, Robert S, Pizoli, Carolyn E, Weisz, Catherine, van den Maagdenberg, Arn M.J.M, Jinnah, H.A, Hess, Ellen J

“…Abstract Dystonia is a complex neurological syndrome broadly characterized by involuntary twisting movements and abnormal postures. The anatomical distribution…”
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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt by Cocanougher, Benjamin T., Liu, Samuel W., Francescatto, Ludmila, Behura, Alexander, Anneling, Mariele, Jackson, David G., Deak, Kristen L., Hornik, Chi D., ElMallah, Mai K., Pizoli, Carolyn E., Smith, Edward C., Tan, Khoon Ghee Queenie, McDonald, Marie T.

“…Biallelic loss-of-function variants in the MUSK gene result in two allelic disorders: (1) congenital myasthenic syndrome (CMS; OMIM: 616325), a neuromuscular…”
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PURA Syndrome and Myotonia by Trau, Steven P., Pizoli, Carolyn E.

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Abnormal Cerebellar Signaling Induces Dystonia in Mice by Pizoli, Carolyn E, Jinnah, H. A, Billingsley, Melvin L, Hess, Ellen J

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Disease Course and Response to Immunotherapy in Children With Childhood Disintegrative Disorder: A Retrospective Case Series by Sullivan, Meghan I., Gupta, Megha J., Taylor, Kathryn A., Van Mater, Heather A., Pizoli, Carolyn E.

“…Childhood disintegrative disorder is a poorly understood neurobehavioral disorder of early childhood characterized by acute to subacute profound regression in…”
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Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration by Khazaei, Sima, Chen, Carol C.L., Andrade, Augusto Faria, Kabir, Nisha, Azarafshar, Pariya, Morcos, Shahir M., França, Josiane Alves, Lopes, Mariana, Lund, Peder J., Danieau, Geoffroy, Worme, Samantha, Adnani, Lata, Nzirorera, Nadine, Chen, Xiao, Yogarajah, Gayathri, Russo, Caterina, Zeinieh, Michele, Wong, Cassandra J., Bryant, Laura, Hébert, Steven, Tong, Bethany, Sihota, Tianna S., Faury, Damien, Puligandla, Evan, Jawhar, Wajih, Sandy, Veronica, Cowan, Mitra, Nakada, Emily M., Jerome-Majewska, Loydie A., Ellezam, Benjamin, Gomes, Carolina Cavalieri, Denecke, Jonas, Lessel, Davor, McDonald, Marie T., Pizoli, Carolyn E., Taylor, Kathryn, Cocanougher, Benjamin T., Bhoj, Elizabeth J., Gingras, Anne-Claude, Garcia, Benjamin A., Lu, Chao, Campos, Eric I., Kleinman, Claudia L., Garzia, Livia, Jabado, Nada

“…Germline histone H3.3 amino acid substitutions, including H3.3G34R/V, cause severe neurodevelopmental syndromes. To understand how these mutations impact brain…”
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Thinner Retinal Nerve Fiber Layer in Very Preterm Versus Term Infants and Relationship to Brain Anatomy and Neurodevelopment by Rothman, Adam L, Sevilla, Monica B, Mangalesh, Shwetha, Gustafson, Kathryn E, Edwards, Laura, Cotten, C. Michael, Shimony, Joshua S, Pizoli, Carolyn E, El-Dairi, Mays A, Freedman, Sharon F, Toth, Cynthia A

“…Purpose To assess retinal nerve fiber layer (RNFL) thickness at term-equivalent age in very preterm (<32 weeks gestational age) vs term-born infant cohorts,…”
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Aphasia Associated With Acute on Chronic Kidney Failure in an Adolescent by Jones, Jacqueline A, Cason, Rachel K, Chambers, Eileen T, Pizoli, Carolyn E, Kumar, Karan R

“…Acute and chronic kidney disease (CKD) have known neurological associations resulting from uremia, electrolyte disturbances, comorbidities such as…”
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Opioid and benzodiazepine use during therapeutic hypothermia in encephalopathic neonates by Berube, Megan W., Lemmon, Monica E., Pizoli, Carolyn E., Bidegain, Margarita, Tolia, Veeral N., Cotten, C. Michael, Greenberg, Rachel G.

“…Objectives To evaluate the use of sedatives and analgesics during therapeutic hypothermia in encephalopathic neonates and assess associations between…”
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Diffuse reduction of white matter connectivity in cerebral palsy with specific vulnerability of long range fiber tracts by Englander, Zoë A, Pizoli, Carolyn E, Batrachenko, Anastasiya, Sun, Jessica, Worley, Gordon, Mikati, Mohamad A, Kurtzberg, Joanne, Song, Allen W

“…Cerebral palsy (CP) is a heterogeneous group of non-progressive motor disorders caused by injury to the developing fetal or infant brain. Although the defining…”
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Abnormal cerebellar signaling induces dystonia in mice by Pizoli, Carolyn E, Jinnah, H A, Billingsley, Melvin L, Hess, Ellen J

“…Dystonia is a relatively common neurological syndrome characterized by twisting movements or sustained abnormal postures. Although the basal ganglia have been…”
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The importance of managing the patient and not the gene: expanded phenotype of GLE1 -associated arthrogryposis by Tan, Queenie K-G, McConkie-Rosell, Allyn, Juusola, Jane, Gustafson, Kathryn E, Pizoli, Carolyn E, Buckley, Anne F, Jiang, Yong-Hui

“…encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in mutations have…”
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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

“…Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode…”
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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L E, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

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Aphasia Associated With Acute on Chronic Kidney Failure in an Adolescent by Jones, Jacqueline A, Cason, Rachel K, Chambers, Eileen T, Pizoli, Carolyn E, Kumar, Karan R

“…Acute and chronic kidney disease (CKD) have known neurological associations resulting from uremia, electrolyte disturbances, comorbidities such as…”
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PURA Syndrome and Myotonia by Trau, Steven P, Pizoli, Carolyn E

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Abnormal cerebellar signaling induces dystonia in mice by Pizoli, Carolyn Elizabeth

“…Dystonia is a relatively common neurological syndrome characterized by twisting movements or sustained abnormal postures. The pathophysiology of dystonia…”
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