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1. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Published
2024
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2. Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Author

Tischfield, Max A., Baris, Hagit N., Wu, Chen, Rudolph, Guenther, Van Maldergem, Lionel, He, Wei, Chan, Wai-Man, Andrews, Caroline, Demer, Joseph L., Robertson, Richard L., Mackey, David A., Ruddle, Jonathan B., Bird, Thomas D., Gottlob, Irene, Pieh, Christina, Traboulsi, Elias I., Pomeroy, Scott L., Hunter, David G., Soul, Janet S., Newlin, Anna, Sabol, Louise J., Doherty, Edward J., de Uzcátegui, Clara E., de Uzcátegui, Nicolas, Collins, Mary Louise Z., Sener, Emin C., Wabbels, Bettina, Hellebrand, Heide, Meitinger, Thomas, de Berardinis, Teresa, Magli, Adriano, Schiavi, Costantino, Pastore-Trossello, Marco, Koc, Feray, Wong, Agnes M., Levin, Alex V., Geraghty, Michael T., Descartes, Maria, Flaherty, Maree, Jamieson, Robyn V., Møller, H.U., Meuthen, Ingo, Callen, David F., Kerwin, Janet, Lindsay, Susan, Meindl, Alfons, Gupta, Mohan L., Jr., Pellman, David, and Engle, Elizabeth C.

Published
2010
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4. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

Author

Engle, Elizabeth C, McIntosh, Nathalie, Yamada, Koki, Lee, Bjorn A, Johnson, Roger, O'Keefe, Michael, Letson, Robert, London, Arnold, Ballard, Evan, Ruttum, Mark, Matsumoto, Naomichi, Saito, Nakamichi, Louise Z Collins, Mary, Morris, Lisa, Monte, Del Monte, Magli, Adriano, and de Berardinis, Teresa

Published
2002
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5. Clinical and surgical data of affected members of a classic CFEOM 1 family

Author

D'Esposito Fabiana, de Berardinis Teresa, Magli Adriano, and Gagliardi Vincenzo

Subjects
congenital fibrosis, extraocular muscles, CFEOM, ptosis, Ophthalmology, RE1-994
Abstract

Abstract Background Congenital fibiosis of the extraocular muscles (CFEOM1) refers to a group of congenital eye movement disorders that are characterized by non-progressive restrictive ophthalmoplegia. We present clinical and surgical data on affected members of a classic CFEOM1 family. Methods Ten members of a fifteen-member, three-generation Italian family affected by classic CFEOM participated in this study. Each affected family member underwent ophthalmologic (corrected visual acuity, pupillary function, anterior segment and fundus examination), orthoptic (cover test, cover-uncover test, prism alternate cover test), and preoperative examinations. Eight of the ten affected members had surgery and underwent postoperative examinations. Surgical procedures are listed. Results All affected members were born with varying degrees of bilateral ptosis and ophthalmoplegia with both eyes fixed in a hypotropic position (classic CFEOM). The affected members clinical data prior to surgery, surgery procedures and postoperative outcomes are presented. On 14 operated eyes to correct ptosis there was an improvement in 12 eyes. In addition, the head position improved in all patients. Conclusions Surgery is effective at improving ptosis in the majority of patients with classic CFEOM. However, the surgical approach should be individualized to each patient, as inherited CFEOM exhibits variable expressivity and the clinical features may differ markedly between affected individuals, even within the same family.

Published
2003
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6. Analysis of foveation duration and repeatability at different gaze positions in patients affected by congenital nystagmus

Author

M. Cesarelli, P. Bifulco, M. Romano, G. Pasquariello, A. Fratini, L. Loffredo, A. Magli, DE BERARDINIS, TERESA, Cesarelli, M., Bifulco, P., Romano, M., Pasquariello, G., Fratini, A., Loffredo, L., Magli, A., and DE BERARDINIS, Teresa

Subjects
EOG, Visual acuity, Conenital nystagmu
Abstract

Congenita nustagmus is a disturbance of the oculomotor centers.Current therapies aim to icrease the patient's visual acuity by means of refraction defect correction, drug delivery and ocular muscles surgery.Eye movement recording supports for accurate diagnosis and therapy evaluation. Selected patients eye movements were recorded by using EOG or infrared oculography devices. Computation of CN concise parameters allows in depth analysis of foveations and estimation of visual acuity at different gaze. Preliminary results show a maximum of visual acuity at a specific gaze angle, this angle is mostly located at the patient right side.

Published
2007

7. IDENTIFICATION OF KIF21A MUTATIONS AS A RARE CAUSE OF CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES TYPE 3 (CFEOM3)

Author

YAMADA K, CHAN WM, ANDREWS C, BOSLEY TM, SENER EC, ZWAAN JT, MULLANEY PB, OZTURK BT, AKARSU AN, SABOL LJ, DEMER JL, SULLIVAN TJ, GOTTLOB I, ROGGENKAEMPER P, MACKEY DA, DE UZCATEGUI CE, UZCATEGUI N, BEN ZEEV B, TRABOULSI EI, MAGLI A, GAGLIARDI V, AWASTHI PATNEY S, VOGEL MC, RIZZO JF RD, ENGLE E.C., INVEST OPHTHALMOL VIS S.C.I. JUL, DE BERARDINIS, TERESA, Yamada, K, Chan, Wm, Andrews, C, Bosley, Tm, Sener, Ec, Zwaan, Jt, Mullaney, Pb, Ozturk, Bt, Akarsu, An, Sabol, Lj, Demer, Jl, Sullivan, Tj, Gottlob, I, Roggenkaemper, P, Mackey, Da, DE UZCATEGUI, Ce, Uzcategui, N, BEN ZEEV, B, Traboulsi, Ei, Magli, A, DE BERARDINIS, Teresa, Gagliardi, V, AWASTHI PATNEY, S, Vogel, Mc, RIZZO JF, Rd, Engle, E. C., and Jul, INVEST OPHTHALMOL VIS S. C. I.

Subjects
CFEOM 3, extraocular muscle, KIF21A
Abstract

PURPOSE: Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3. METHODS: All pedigrees and sporadic individuals with CFEOM3 in the authors' database were identified, whether the pedigrees were linked or consistent with linkage to the FEOM1, FEOM2, and/or FEOM3 loci was determined, and the appropriate pedigrees and the sporadic individuals were screened for mutations in KIF21A and PHOX2A. RESULTS: Twelve CFEOM3 pedigrees and 10 CFEOM3 sporadic individuals were identified in the database. The structures of eight of the pedigrees permitted the generation of meaningful linkage data. KIF21A was screened in 17 probands, and mutations were identified in two CFEOM3 pedigrees. One pedigree harbored a novel mutation (2841G-->A, M947I) and one harbored the most common and recurrent of the CFEOM1 mutations identified previously (2860C-->T, R954W). None of CFEOM3 pedigrees or sporadic individuals harbored mutations in PHOX2A. CONCLUSIONS: The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 and that KIF21A mutations can be nonpenetrant. Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype.

Published
2004

9. Clinical and surgical data of affected members of a classic CFEOM 1 family

Author

MAGLI A, D'ESPOSITO F, GAGLIARDI V., DIPARTIMENTO DI SCIENZE OFTALMOLOGICHE FACOLTA DI MEDICINA E. CHIRURGIA UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO I.I., DE BERARDINIS, TERESA, Magli, A, DE BERARDINIS, Teresa, D'Esposito, F, Gagliardi, V., and DIPARTIMENTO DI SCIENZE OFTALMOLOGICHE FACOLTA DI MEDICINA, E. CHIRURGIA UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO I. I.

Published
2003

10. Treatment of blepharospasm with botulinum neurotoxin type A: long-term results

Author

CALACE P, CORTESE G, PISCOPO R, DELLA VOLPE G, GAGLIARDI V, MAGLI A, DEPARTMENT OF OPHTHALMOLOGIC SCIENCES, FACULTY OF MEDICINE AND SURGERY, UNIVERSITY FEDERICO II, NAPOLI, ITALY, DE BERARDINIS, TERESA, Calace, P, Cortese, G, Piscopo, R, DELLA VOLPE, G, Gagliardi, V, Magli, A, DE BERARDINIS, Teresa, DEPARTMENT OF OPHTHALMOLOGIC, Science, FACULTY OF MEDICINE AND, Surgery, UNIVERSITY FEDERICO, Ii, and Napoli, Italy

Published
2003

11. BMC Genet. 2002;3(1):3. Epub 2002 Mar 06. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

Author

ENGLE EC, MCINTOSH N, YAMADA K, LEE BA, JOHNSON R, O'KEEFE M, LETSON R, LONDON A, BALLARD E, RUTTUM M, MATSUMOTO N, SAITO N, COLLINS ML, MORRIS L, DEL MONTE M, MAGLI A, DIVISION OF GENETICS, CHILDRENS HOSPITAL, BOSTON, MA, U.S.A., DE BERARDINIS, TERESA, Engle, Ec, Mcintosh, N, Yamada, K, Lee, Ba, Johnson, R, O'Keefe, M, Letson, R, London, A, Ballard, E, Ruttum, M, Matsumoto, N, Saito, N, Collins, Ml, Morris, L, DEL MONTE, M, Magli, A, DE BERARDINIS, Teresa, DIVISION OF, Genetic, Childrens, Hospital, Boston, Ma, and U. S., A.

Published
2002

16. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Abstract

To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).

Published
2024
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26. Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients

Author

Gargiulo, Annagiusi, primary, Testa, Francesco, additional, Rossi, Settimio, additional, Di Iorio, Valentina, additional, Fecarotta, Simona, additional, de Berardinis, Teresa, additional, Iovine, Antonello, additional, Magli, Adriano, additional, Signorini, Sabrina, additional, Fazzi, Elisa, additional, Galantuomo, Maria Silvana, additional, Fossarello, Maurizio, additional, Montefusco, Sandro, additional, Ciccodicola, Alfredo, additional, Neri, Alberto, additional, Macaluso, Claudio, additional, Simonelli, Francesca, additional, and Surace, Enrico Maria, additional

Published
2011
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27. Identification ofKIF21AMutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

Author

Yamada, Koki, primary, Chan, Wai-Man, additional, Andrews, Caroline, additional, Bosley, Thomas M., additional, Sener, Emin C., additional, Zwaan, Johan T., additional, Mullaney, Paul B., additional, O¨ztu¨rk, Banu T., additional, Akarsu, A. Nurten, additional, Sabol, Louise J., additional, Demer, Joseph L., additional, Sullivan, Timothy J., additional, Gottlob, Irene, additional, Roggenka¨emper, Peter, additional, Mackey, David A., additional, de Uzcategui, Clara E., additional, Uzcategui, Nicolas, additional, Ben-Zeev, Bruria, additional, Traboulsi, Elias I., additional, Magli, Adriano, additional, de Berardinis, Teresa, additional, Gagliardi, Vincenzo, additional, Awasthi-Patney, Sudha, additional, Vogel, Marlene C., additional, Rizzo, Joseph F., additional, and Engle, Elizabeth C., additional

Published
2004
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28. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Author

Yamada, Koki, primary, Andrews, Caroline, additional, Chan, Wai-Man, additional, McKeown, Craig A, additional, Magli, Adriano, additional, de Berardinis, Teresa, additional, Loewenstein, Anat, additional, Lazar, Moshe, additional, O'Keefe, Michael, additional, Letson, Robert, additional, London, Arnold, additional, Ruttum, Mark, additional, Matsumoto, Naomichi, additional, Saito, Nakamichi, additional, Morris, Lisa, additional, Monte, Monte Del, additional, Johnson, Roger H, additional, Uyama, Eiichiro, additional, Houtman, Willem A, additional, de Vries, Berendina, additional, Carlow, Thomas J, additional, Hart, Blaine L, additional, Krawiecki, Nicolas, additional, Shoffner, John, additional, Vogel, Marlene C, additional, Katowitz, James, additional, Goldstein, Scott M, additional, Levin, Alex V, additional, Sener, Emin C, additional, Ozturk, Banu T, additional, Akarsu, A Nurten, additional, Brodsky, Michael C, additional, Hanisch, Frank, additional, Cruse, Robert P, additional, Zubcov, Alina A, additional, Robb, Richard M, additional, Roggenkäemper, Peter, additional, Gottlob, Irene, additional, Kowal, Lionel, additional, Battu, Ravi, additional, Traboulsi, Elias I, additional, Franceschini, Piergiorgio, additional, Newlin, Anna, additional, Demer, Joseph L, additional, and Engle, Elizabeth C, additional

Published
2003
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30. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Author

Monte A. Del Monte, Berendina De Vries, Arnold London, Wai-Man Chan, Emin Cumhur Sener, Anat Loewenstein, Joseph L. Demer, Elizabeth C. Engle, Nakamichi Saito, Robert P. Cruse, Michael C. Brodsky, A. Nurten Akarsu, Roger H. Johnson, Mark S. Ruttum, Alina A. Zubcov, Alex V. Levin, Naomichi Matsumoto, Blaine L. Hart, Teresa de Berardinis, Lionel Kowal, Ravi Battu, Marlene C. Vogel, Michael O'Keefe, Thomas J. Carlow, Frank Hanisch, Banu T. Öztürk, Caroline Andrews, Robert D. Letson, Moshe Lazar, Eiichiro Uyama, Craig A. McKeown, James A. Katowitz, Scott M. Goldstein, Piergiorgio Franceschini, Richard M. Robb, Lisa Morris, Adriano Magli, Koki Yamada, Peter Roggenkäemper, Nicolas Krawiecki, Willem A. Houtman, John M. Shoffner, Anna Newlin, Elias I. Traboulsi, Irene Gottlob, Yamada, K, Andrews, C, Chan, Wm, Mckeown, Ca, Magli, A, DE BERARDINIS, Teresa, Loewenstein, A, Lazar, M, O'Keefe, M, Letson, R, London, A, Ruttum, M, Matsumoto, N, Saito, N, Morris, L, DEL MONTE, M, Johnson, Rh, Uyama, E, Houtman, Wa, DE VRIES, B, Carlow, Tj, Hart, Bl, Krawiecki, N, Shoffner, J, Vogel, Mc, Katowitz, J, Goldstein, Sm, Levin, Av, Sener, Ec, Ozturk, Bt, Akarsu, An, Brodsky, Mc, Hanisch, F, Cruse, Rp, Zubcov, Aa, Robb, Rm, Roggenkaemper, P, Gottlob, I, Kowal, L, Battu, R, Traboulsi, Ei, Franceschini, P, Newlin, A, Demer, Jl, and Engle, E. C.

Subjects
Proband, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Genetic Linkage, Molecular Sequence Data, Kinesins, Nerve Tissue Proteins, Biology, REGION, Motor protein, Mutational hotspot, Congenital fibrosis of the extraocular muscles, MAPS, Genetics, medicine, Missense mutation, Humans, Amino Acid Sequence, Strabismus, Child, Ophthalmoplegia, Sequence Homology, Amino Acid, CHROMOSOME-12, REFINEMENT, Oculomotor nerve, Genetic Variation, EXTERNAL OPHTHALMOPLEGIA, medicine.disease, Fibrosis, eye diseases, Pedigree, Phenotype, Oculomotor Muscles, Mutation, Kinesin, Female
Abstract

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.

Published
2003

31. Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1

Author

Francesco Pierelli, Carlo Casali, Francesca Piccolo, Alessandra Tessa, Umberto Sabatini, Giovanna Comanducci, Roberto Di Fabio, Filippo M. Santorelli, Teresa de Berardinis, Roberto Di, Fabio, Giovanna, Comanducci, Francesca, Piccolo, Filippo Maria, Santorelli, DE BERARDINIS, Teresa, Alessandra, Tessa, Umberto, Sabatini, Francesco, Pierelli, and Carlo, Casali

Subjects
medicine.medical_specialty, Neurology, business.industry, CFEOM, Anatomy, medicine.disease, Extraocular muscles, Cerebellar Atrophy, medicine.anatomical_structure, Congenital fibrosis of the extraocular muscles, medicine, Extraocular Muscles, Cerebellar atrophy, Neurology (clinical), Syndactyly, business
Abstract

We described a family with a molecularly confirmed form of CFEOM1 and a late-onset cerebellar syndrome. Brain MRI showed vermis atrophy in two older family members, who also manifested gait impairment, whereas both neurological examination and neuroimaging findings were normal in a younger relative who harbored the same mutation.

Published
2013

32. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

Author

Ingo Meuthen, Janet Kerwin, Teresa de Berardinis, Alfons Meindl, Costantino Schiavi, Robyn V. Jamieson, Christina Pieh, Hagit N. Baris, Bettina Wabbels, Feray Koc, Wei He, Scott L. Pomeroy, Maree Flaherty, Joseph L. Demer, David A. Mackey, Emin Cumhur Sener, Jonathan B Ruddle, Lionel Van Maldergem, Louise J. Sabol, Susan Lindsay, Nicolas Uzcategui, Irene Gottlob, David F. Callen, Max A. Tischfield, Richard L. Robertson, Clara E. de Uzcategui, Thomas D. Bird, Janet S. Soul, Alex V. Levin, Marco Pastore-Trossello, Thomas Meitinger, Hans Ulrik Møller, Elizabeth C. Engle, Mary Louise Z. Collins, David G. Hunter, Maria Descartes, Edward J. Doherty, Mohan L. Gupta, Adriano Magli, Agnes M. F. Wong, Caroline Andrews, Chen Wu, Elias I. Traboulsi, Wai-Man Chan, Michael T. Geraghty, David Pellman, Anna Newlin, G. Rudolph, Heide Hellebrand, USA, M. A. TISCHFIELD, H. N. BARIS, C. WU, G. RUDOLPH, L. VAN MALDERGEM, W. HE, WAI-MAN CHAN, C. ANDREWS, J. L. DEMER, R. L. ROBERTSON, D. A. MACKEY, J. B. RUDDLE, T. D. BIRD, I. GOTTLOB, C. PIEH, E. TRABOULSI, S. POMEROY, D. HUNTER, J. S. SOUL, A. NEWLIN, L. J. SABOL, E. J. DOHERTY, C. E. DE UZCATEGUI, N. DE UZCATEGUI, M. L. Z. COLLINS, E. C. SENER, B. WABBELS, H. HELLEBRAND, T. MEITINGER, T. DE BERARDINIS, A. MAGLI, C. SCHIAVI, M. PASTORE-TROSSELLO, F. KOC, A. M. WONG, A. L. LEVIN, M. T. GERAGHTY, M. DESCARTES, M. FLAHERTY, R. V. JAMIESON, H. U. MOELLER, I. MEUTHEN, D. F. CALLEN, J. KERWIN, S. LINDSAY, A. MEINDLI, M.L. GUPTA Jr, D. PELLMAN, E. C. ENGLE, Acibadem University Dspace, Tischfield, Ma, Baris, Hn, Wu, C, Rudolph, G, Van Maldergem, L, He, W, Chan, Wm, Andrews, C, Demer, Jl, Robertson, Rl, Mackey, Da, Ruddle, Jb, Bird, Td, Gottlob, I, Pieh, C, Traboulsi, Ei, Pomeroy, Sl, Hunter, Dg, Soul, J, Newlin, A, Sabol, Lj, Doherty, Ej, de Uzcátegui, Ce, de Uzcátegui, N, Collins, Ml, Sener, Ec, Wabbels, B, Hellebrand, H, Meitinger, T, DE BERARDINIS, Teresa, Magli, Adriano, Schiavi, C, Pastore Trossello, M, Koc, F, Wong, Am, Levin, Av, Geraghty, Mt, Descartes, M, Flaherty, M, Jamieson, Rv, Møller, Hu, Meuthen, I, Callen, Df, Kerwin, J, Lindsay, S, Meindl, A, Gupta ML, Jr, Pellman, D, and Engle, E. C.

Subjects
Male, Models, Molecular, Nervous system, Cell Survival, Developmental Disabilities, Molecular Sequence Data, Mutation, Missense, HUMDISEASE, Kinesins, Anterior commissure, Biology, medicine.disease_cause, Microtubules, MOLNEURO, General Biochemistry, Genetics and Molecular Biology, Mice, Tubulin, Microtubule, medicine, Animals, Humans, Missense mutation, Amino Acid Sequence, Child, Genetics, Mutation, Biochemistry, Genetics and Molecular Biology(all), Brain, Axons, extraocular muscles, Mice, Inbred C57BL, Protein Transport, medicine.anatomical_structure, biology.protein, TUBB3 syndrome, Kinesin, Female, CELLBIO, Axon guidance, CFEOM3, Neuroscience
Abstract

none 49 We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tubulin isotype III, result in a spectrum of human nervous system disorders that we now call the TUBB3 syndromes. Each mutation causes the ocular motility disorder CFEOM3, whereas some also result in intellectual and behavioral impairments, facial paralysis, and/or later-onset axonal sensorimotor polyneuropathy. Neuroimaging reveals a spectrum of abnormalities including hypoplasia of oculomotor nerves and dysgenesis of the corpus callosum, anterior commissure, and corticospinal tracts. A knock-in disease mouse model reveals axon guidance defects without evidence of cortical cell migration abnormalities. We show that the disease-associated mutations can impair tubulin heterodimer formation in vitro, although folded mutant heterodimers can still polymerize into microtubules. Modeling each mutation in yeast tubulin demonstrates that all alter dynamic instability whereas a subset disrupts the interaction of microtubules with kinesin motors. These findings demonstrate that normal TUBB3 is required for axon guidance and maintenance in mammals. none M. A. TISCHFIELD; H. N. BARIS; C. WU; G. RUDOLPH; L. VAN MALDERGEM; W. HE; WAI-MAN CHAN; C. ANDREWS; J. L. DEMER; R. L. ROBERTSON; D. A. MACKEY; J. B. RUDDLE; T. D. BIRD; I. GOTTLOB; C. PIEH; E. TRABOULSI; S. POMEROY; D. HUNTER; J. S. SOUL; A. NEWLIN; L. J. SABOL; E. J. DOHERTY; C. E. DE UZCATEGUI; N. DE UZCATEGUI; M. L. Z. COLLINS; E. C. SENER; B. WABBELS; H. HELLEBRAND; T. MEITINGER; T. DE BERARDINIS; A. MAGLI; C. SCHIAVI; M. PASTORE-TROSSELLO; F. KOC; A. M. WONG; A. L. LEVIN; M. T. GERAGHTY; M. DESCARTES; M. FLAHERTY; R. V. JAMIESON; H. U. MOELLER; I. MEUTHEN; D. F. CALLEN; J. KERWIN; S. LINDSAY; A. MEINDLI; M.L. GUPTA Jr; D. PELLMAN; E. C. ENGLE M. A. TISCHFIELD; H. N. BARIS; C. WU; G. RUDOLPH; L. VAN MALDERGEM; W. HE; WAI-MAN CHAN; C. ANDREWS; J. L. DEMER; R. L. ROBERTSON; D. A. MACKEY; J. B. RUDDLE; T. D. BIRD; I. GOTTLOB; C. PIEH; E. TRABOULSI; S. POMEROY; D. HUNTER; J. S. SOUL; A. NEWLIN; L. J. SABOL; E. J. DOHERTY; C. E. DE UZCATEGUI; N. DE UZCATEGUI; M. L. Z. COLLINS; E. C. SENER; B. WABBELS; H. HELLEBRAND; T. MEITINGER; T. DE BERARDINIS; A. MAGLI; C. SCHIAVI; M. PASTORE-TROSSELLO; F. KOC; A. M. WONG; A. L. LEVIN; M. T. GERAGHTY; M. DESCARTES; M. FLAHERTY; R. V. JAMIESON; H. U. MOELLER; I. MEUTHEN; D. F. CALLEN; J. KERWIN; S. LINDSAY; A. MEINDLI; M.L. GUPTA Jr; D. PELLMAN; E. C. ENGLE

Published
2010

33. Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly

Author

Francesco Fimiani, V. M. Ginocchio, Stefania Gimelli, Lucio Nitsch, Rita Genesio, Teresa de Berardinis, Roberto Della Casa, Roberto Ciccone, Adriano Magli, Sandro Banfi, Daniele De Brasi, Ginocchio, V. M., DE BRASI, D., Genesio, R., Ciccone, R., Gimelli, S., Fimiani, F., DE BERARDINIS, Teresa, Nitsch, Lucio, Banfi, S., Magli, Adriano, and DELLA CASA, Roberto

Subjects
Male, Microcephaly, Aneuploidy, Trisomy, Microphthalmia, Holoprosencephaly, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Hedgehog Proteins, Eye Abnormalities, deletion, microcephaly, Sonic hedgehog, trisomy chromosome 3p, Genetics (clinical), Chromosome 7 (human), biology, Infant, Newborn, General Medicine, medicine.disease, Sonic Hedgehog, microphthalmia, Karyotyping, biology.protein, Chromosomes, Human, Pair 3, Gene Deletion
Abstract

About 20% of cases with 7q deletion syndrome is associated with holoprosencephaly (HPE), due to deletion of the Sonic Hedgehog (SHH) gene (mapping to 7q36). The occurrence of severe forms of holoprosencephaly is higher in cases of 7q deletion associated with partial trisomies involving different parts of the genomes than in patients with pure 7q deletion. All cases of 7q deletion associated with 3p duplication reported to date have been associated with severe forms of holoprosencephaly, and a gene(s) on distal 3p has (have) been hypothesized to be responsible for HPE phenotype when in triple dose. Here we describe a patient with unbalanced 3p;7q translocation, showing 7q deletion (including SHH gene) and 3p duplication (complete karyotype was 46,XY,der(7)t(3;7)(p26.3;q36.1)), presenting with a relatively mild phenotype, consisting of microphthalmia and microcephaly, without cerebral anomalies typical of holoprosencephaly. Possible involvement of some genes on 3p in determining such a mild phenotype is discussed.

Published
2008

34. Possible risk factors for primary adult onset dystonia: a case-control investigation by the Italian Movement Disorders Study Group

Author

Alberto Albanese, Giovanni Abbruzzese, Paolo Girlanda, S. Maurri, L Capus, D Acquistapace, Coviello, Lepore, Francesco Carella, Giuseppe Galardi, De Berardinis Mt, Aroldo Rossi, Rocco Liguori, Lucio Santoro, Paolo Livrea, Alfredo Berardelli, G Tognoni, Giovanni Defazio, Laura Bertolasi, Defazio, G, Berardelli, A, Abbruzzese, G, Lepore, V, Coviello, V, Acquistapace, D, Capus, L, Carella, F, De Berardinis, Mt, Galardi, G, Girlanda, P, Maurri, S, Albanese, A, Bertolasi, L, Liguori, R, Rossi, A, Santoro, Lucio, Tognoni, G, Livrea, P., DE BERARDINIS, Teresa, and Santoro, L

Subjects
Adult, Male, medicine.medical_specialty, Pediatrics, Movement disorders, Neurological disorder, Blepharospam, Age Distribution, Risk Factors, Surveys and Questionnaires, Tremor, medicine, Humans, Risk factor, Family history, Coma, Aged, Dystonia, Analysis of Variance, business.industry, Parkinsonism, Middle Aged, medicine.disease, Psychiatry and Mental health, Logistic Models, Italy, Case-Control Studies, Papers, Etiology, Physical therapy, Focal dystonia, Wounds and Injuries, Surgery, Female, Neurology (clinical), medicine.symptom, Age of onset, business
Abstract

Objectives—Little is known about the aetiology of idiopathic adult onset dystonia. The Italian Movement Disorders Study Group promoted a case-control study on some hypothetical risk factors including past medical events, life events, life habits, occupational hazards, and family hystory of dystonia, parkinsonism, and tremor. Methods—Cases aVected by idiopathic adult onset dystonia (age at symptom onset >20 years, duration of disease >one year and

Published
1998

35. Risk factors for spread of primary adult onset blepharospasm: A multicentre investigation of the Italian movement disorders study group

Author

Vincenzo Coviello, L. Santoro, M. Mucchiut, Giorgio Assennato, Rocco Liguori, Nicola Tambasco, S. Maurri, Alfredo Berardelli, M. T. De Berardinis, G. Defazio, G. Abbruzzese, Paolo Girlanda, Francesco Carella, M. Basciani, Alberto Albanese, Laura Bertolasi, Paolo Livrea, Giuseppe Galardi, G., Defazio, A., Berardelli, G., Abbruzzese, V., Coviello, F., Carella, DE BERARDINIS, Teresa, G., Galardi, P., Girlanda, S., Maurri, M., Mucchiut, A., Albanese, M., Basciani, L., Bertolasi, R., Liguori, N., Tambasco, L., Santoro, G., Assennato, P., Livrea, Defazio, G, Berardelli, A, Abbruzzese, G, Coviello, V, Carella, F, De Berardinis, Mt, Galardi, G, Girlanda, P, Maurri, S, Mucchiut, M, Albanese, A, Basciani, M, Bertolasi, L, Liguori, R, Tambasco, N, Santoro, Lucio, Assennato, G, and Livrea, P.

Subjects
Male, Pediatrics, medicine.medical_specialty, Movement disorders, Blepharospasm, Unconsciousness, Sex Factors, Risk Factors, medicine, Craniocerebral Trauma, Humans, Cervical dystonia, Risk factor, Family history, Age of Onset, Facial Injuries, Aged, Demography, Dystonia, business.industry, Focal dystonia, Middle Aged, medicine.disease, eye diseases, Psychiatry and Mental health, Papers, Physical therapy, Surgery, Female, Neurology (clinical), medicine.symptom, Age of onset, business
Abstract

OBJECTIVES Little is known about factors influencing the spread of blepharospasm to other body parts. An investigation was carried out to deterrmine whether demographic features (sex, age at blepharospasm onset), putative risk, or protective factors for blepharospasm (family history of dystonia or tremor, previous head or face trauma with loss of consciousness, ocular diseases, and cigarette smoking), age related diseases (diabetes, hypertension), edentulousness, and neck or trunk trauma preceding the onset of blepharospasm could distinguish patients with blepharospasm who had spread of dystonia from those who did not. METHODS 159 outpatients presenting initially with blepharospasm were selected in 16 Italian Institutions. There were 104 patients with focal blepharospasm (mean duration of disease 5.3 (SD 1.9) years) and 55 patients in whom segmental or multifocal dystonia developed (mainly in the cranial cervical area) 1.5 (1.2) years after the onset of blepharospasm. Information was obtained from a standardised questionnaire administered by medical interviewers. A Cox regression model was used to examine the relation between the investigated variables and spread. RESULTS Previous head or face trauma with loss of consciousness, age at the onset of blepharospasm, and female sex were independently associated with an increased risk of spread. A significant association was not found between spread of dystonia and previous ocular diseases, hypertension, diabetes, neck or trunk trauma, edentulousness, cigarette smoking, and family history of dystonia or tremor. An unsatisfactory study power negatively influenced the validity and accuracy of the negative findings relative to diabetes, neck or trunk trauma, and cigarette smoking. CONCLUSIONS The results of this exploratory study confirm that patients presenting initially with blepharospasm are most likely to experience some spread of dystonia within a few years of the onset of blepharospasm and suggest that head or face trauma with loss of consciousness preceding the onset, age at onset, and female sex may be relevant to spread. The suggested association between edentulousness and cranial cervical dystonia may be apparent because of the confounding effect of both age at onset and head or face trauma with loss of consciousness. The lack of influence of family history of dystonia on spread is consistent with previous findings indicating that the inheritance pattern is the same for focal and segmental blepharospasm.

36. Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.

Author

Jurgens JA, Matos Ruiz PM, King J, Foster EE, Berube L, Chan WM, Barry BJ, Jeong R, Rothman E, Whitman MC, MacKinnon S, Rivera-Quiles C, Pratt BM, Easterbrooks T, Mensching FM, Di Gioia SA, Pais L, England EM, de Berardinis T, Magli A, Koc F, Asakawa K, Kawakami K, O'Donnell-Luria A, Hunter DG, Robson CD, Bulyk ML, and Engle EC

Abstract

Purpose: To functionally evaluate novel human sequence-derived candidate genes and variants for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs)., Methods: Through exome and genome sequencing of a genetically unsolved human oCCDD cohort, we previously identified variants in 80 strong candidate genes. Here, we further prioritized a subset of these (43 human genes, 57 zebrafish genes) using a G0 CRISPR/Cas9-based knockout assay in zebrafish and generated F2 germline mutants for seventeen. We tested the functionality of variants of uncertain significance in known and novel candidate transcription factor-encoding genes through protein binding microarrays., Results: We first demonstrated the feasibility of the G0 screen by targeting known oCCDD genes phox2a and mafba . 70-90% of gene-targeted G0 zebrafish embryos recapitulated germline homozygous null-equivalent phenotypes. Using this approach, we then identified three novel candidate oCCDD genes ( SEMA3F, OLIG2 , and FRMD4B ) with putative contributions to human and zebrafish cranial motor development. In addition, protein binding microarrays demonstrated reduced or abolished DNA binding of human variants of uncertain significance in known and novel sequence-derived transcription factors PHOX2A (p.(Trp137Cys)), MAFB (p.(Glu223Lys)), and OLIG2 (p.(Arg156Leu))., Conclusions: This study nominates three strong novel candidate oCCDD genes ( SEMA3F, OLIG2 , and FRMD4B ) and supports the functionality and putative pathogenicity of transcription factor candidate variants PHOX2A p.(Trp137Cys), MAFB p.(Glu223Lys), and OLIG2 p.(Arg156Leu). Our findings support that G0 loss-of-function screening in zebrafish can be coupled with human sequence analysis and protein binding microarrays to aid in prioritizing oCCDD candidate genes/variants.

Published
2024
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