. Epilepsia 2021
Times Cited: 4
Times Cited: 4
Times Cited
Times Co-cited
Similarity
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu. Sci Rep 2017
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu. Sci Rep 2017
50
Two cases of DYNC1H1 mutations with intractable epilepsy.
Ayumi Matsumoto, Karin Kojima, Fuyuki Miya, Akihiko Miyauchi, Kazuhisa Watanabe, Sadahiko Iwamoto, Kensuke Kawai, Mitsuhiro Kato, Yukitoshi Takahashi, Takanori Yamagata. Brain Dev 2021
Ayumi Matsumoto, Karin Kojima, Fuyuki Miya, Akihiko Miyauchi, Kazuhisa Watanabe, Sadahiko Iwamoto, Kensuke Kawai, Mitsuhiro Kato, Yukitoshi Takahashi, Takanori Yamagata. Brain Dev 2021
66
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Mariacristina Scoto, Alexander M Rossor, Matthew B Harms, Sebahattin Cirak, Mattia Calissano, Stephanie Robb, Adnan Y Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour,[...]. Neurology 2015
Mariacristina Scoto, Alexander M Rossor, Matthew B Harms, Sebahattin Cirak, Mattia Calissano, Stephanie Robb, Adnan Y Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour,[...]. Neurology 2015
50
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, Ghayda M Mirzaa, James T Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma Carvill,[...]. Genet Med 2018
Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, Ghayda M Mirzaa, James T Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma Carvill,[...]. Genet Med 2018
50
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Sonia Amabile, Lauren Jeffries, James M McGrath, Weizhen Ji, Michele Spencer-Manzon, Hui Zhang, Saquib A Lakhani. Am J Med Genet A 2020
Sonia Amabile, Lauren Jeffries, James M McGrath, Weizhen Ji, Michele Spencer-Manzon, Hui Zhang, Saquib A Lakhani. Am J Med Genet A 2020
50
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
Lena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus Bok, Lance Rodan, Ingrid Krapels,[...]. J Hum Genet 2020
Lena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus Bok, Lance Rodan, Ingrid Krapels,[...]. J Hum Genet 2020
50
Cytoplasmic dynein heavy chain: the servant of many masters.
Giampietro Schiavo, Linda Greensmith, Majid Hafezparast, Elizabeth M C Fisher. Trends Neurosci 2013
Giampietro Schiavo, Linda Greensmith, Majid Hafezparast, Elizabeth M C Fisher. Trends Neurosci 2013
50
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
50
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Marjolein H Willemsen, Lisenka E L Vissers, Michèl A A P Willemsen, Bregje W M van Bon, Thessa Kroes, Joep de Ligt, Bert B de Vries, Jeroen Schoots, Dorien Lugtenberg, Ben C J Hamel,[...]. J Med Genet 2012
Marjolein H Willemsen, Lisenka E L Vissers, Michèl A A P Willemsen, Bregje W M van Bon, Thessa Kroes, Joep de Ligt, Bert B de Vries, Jeroen Schoots, Dorien Lugtenberg, Ben C J Hamel,[...]. J Med Genet 2012
50
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Karine Poirier, Nicolas Lebrun, Loic Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stephanie Valence, Benjamin Saint Pierre, Madison Oger,[...]. Nat Genet 2013
Karine Poirier, Nicolas Lebrun, Loic Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stephanie Valence, Benjamin Saint Pierre, Madison Oger,[...]. Nat Genet 2013
50
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.
Sintia Kolbjer, Daniel A Martin, Maria Pettersson, Maria Dahlin, Britt-Marie Anderlid. Eur J Paediatr Neurol 2021
Sintia Kolbjer, Daniel A Martin, Maria Pettersson, Maria Dahlin, Britt-Marie Anderlid. Eur J Paediatr Neurol 2021
50
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Katherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig. Genet Med 2016
Katherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig. Genet Med 2016
25
Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, Kurian Koshy, Eppie Yiu, Goknur Haliloglu, Diclehan Orhan, Phillipa J Lamont, Mark R Davis, Nigel G Laing,[...]. Neuromuscul Disord 2017
Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, Kurian Koshy, Eppie Yiu, Goknur Haliloglu, Diclehan Orhan, Phillipa J Lamont, Mark R Davis, Nigel G Laing,[...]. Neuromuscul Disord 2017
25
The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
25
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Thalia Antoniadi, Chris Buxton, Gemma Dennis, Natalie Forrester, Debbie Smith, Peter Lunt, Sarah Burton-Jones. BMC Med Genet 2015
Thalia Antoniadi, Chris Buxton, Gemma Dennis, Natalie Forrester, Debbie Smith, Peter Lunt, Sarah Burton-Jones. BMC Med Genet 2015
25
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
Michael N Weedon, Robert Hastings, Richard Caswell, Weijia Xie, Konrad Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth Newbury-Ecob,[...]. Am J Hum Genet 2011
Michael N Weedon, Robert Hastings, Richard Caswell, Weijia Xie, Konrad Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth Newbury-Ecob,[...]. Am J Hum Genet 2011
25
Structure and functional role of dynein's microtubule-binding domain.
Andrew P Carter, Joan E Garbarino, Elizabeth M Wilson-Kubalek, Wesley E Shipley, Carol Cho, Ronald A Milligan, Ronald D Vale, I R Gibbons. Science 2008
Andrew P Carter, Joan E Garbarino, Elizabeth M Wilson-Kubalek, Wesley E Shipley, Carol Cho, Ronald A Milligan, Ronald D Vale, I R Gibbons. Science 2008
25
Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.
M B Harms, P Allred, R Gardner, J A Fernandes Filho, J Florence, A Pestronk, M Al-Lozi, R H Baloh. Neurology 2010
M B Harms, P Allred, R Gardner, J A Fernandes Filho, J Florence, A Pestronk, M Al-Lozi, R H Baloh. Neurology 2010
25
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Elizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A Lawson, Ian Andrews, Hugo Sampaio, Alexandra M Johnson, Michelle A Farrar,[...]. Mol Genet Genomic Med 2018
Elizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A Lawson, Ian Andrews, Hugo Sampaio, Alexandra M Johnson, Michelle A Farrar,[...]. Mol Genet Genomic Med 2018
25
DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.
Ha Thi Hoang, Max A Schlager, Andrew P Carter, Simon L Bullock. Proc Natl Acad Sci U S A 2017
Ha Thi Hoang, Max A Schlager, Andrew P Carter, Simon L Bullock. Proc Natl Acad Sci U S A 2017
25
A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality.
Sophelia Hoi Shan Chan, Nens van Alfen, Inger Johanne Thuestad, Janice Ip, Angel On-Kei Chan, Christopher Mak, Brian Hon-Yin Chung, Aad Verrips, Erik-Jan Kamsteeg. Neuromuscul Disord 2018
Sophelia Hoi Shan Chan, Nens van Alfen, Inger Johanne Thuestad, Janice Ip, Angel On-Kei Chan, Christopher Mak, Brian Hon-Yin Chung, Aad Verrips, Erik-Jan Kamsteeg. Neuromuscul Disord 2018
25
Electrographic seizures during therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy.
Courtney J Wusthoff, Dennis J Dlugos, Ana Gutierrez-Colina, Anne Wang, Noah Cook, Maureen Donnelly, Robert Clancy, Nicholas S Abend. J Child Neurol 2011
Courtney J Wusthoff, Dennis J Dlugos, Ana Gutierrez-Colina, Anne Wang, Noah Cook, Maureen Donnelly, Robert Clancy, Nicholas S Abend. J Child Neurol 2011
25
Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis, part 1.
O A Glenn, A J Barkovich. AJNR Am J Neuroradiol 2006
O A Glenn, A J Barkovich. AJNR Am J Neuroradiol 2006
25
25
Challenges in managing epilepsy associated with focal cortical dysplasia in children.
Lily C Wong-Kisiel, Thomas Blauwblomme, Mai-Lan Ho, Nathalie Boddaert, Joseph Parisi, Elaine Wirrell, Rima Nabbout. Epilepsy Res 2018
Lily C Wong-Kisiel, Thomas Blauwblomme, Mai-Lan Ho, Nathalie Boddaert, Joseph Parisi, Elaine Wirrell, Rima Nabbout. Epilepsy Res 2018
25
Neurocritical care for neonates.
Hannah C Glass, Sonia L Bonifacio, Susan Peloquin, Thomas Shimotake, Sally Sehring, Yao Sun, Joseph Sullivan, Elizabeth Rogers, A James Barkovich, David Rowitch,[...]. Neurocrit Care 2010
Hannah C Glass, Sonia L Bonifacio, Susan Peloquin, Thomas Shimotake, Sally Sehring, Yao Sun, Joseph Sullivan, Elizabeth Rogers, A James Barkovich, David Rowitch,[...]. Neurocrit Care 2010
25
Polymicrogyria: pathology, fetal origins and mechanisms.
Waney Squier, Anna Jansen. Acta Neuropathol Commun 2014
Waney Squier, Anna Jansen. Acta Neuropathol Commun 2014
25
Precision Therapy for Epilepsy Related to Brain Malformations.
Alissa M D'Gama, Annapurna Poduri. Neurotherapeutics 2021
Alissa M D'Gama, Annapurna Poduri. Neurotherapeutics 2021
33
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Adolfo Etchegaray, Sofia Juarez-Peñalva, Florencia Petracchi, Laura Igarzabal. Childs Nerv Syst 2020
Adolfo Etchegaray, Sofia Juarez-Peñalva, Florencia Petracchi, Laura Igarzabal. Childs Nerv Syst 2020
25
Excitatory/Inhibitory Synaptic Ratios in Polymicrogyria and Down Syndrome Help Explain Epileptogenesis in Malformations.
Harvey B Sarnat, Laura Flores-Sarnat. Pediatr Neurol 2021
Harvey B Sarnat, Laura Flores-Sarnat. Pediatr Neurol 2021
25
Malformations of cortical development and epilepsy.
A James Barkovich, William B Dobyns, Renzo Guerrini. Cold Spring Harb Perspect Med 2015
A James Barkovich, William B Dobyns, Renzo Guerrini. Cold Spring Harb Perspect Med 2015
25
Value of pre- and postnatal magnetic resonance imaging in the evaluation of congenital central nervous system anomalies.
Usha D Nagaraj, Charu Venkatesan, Karin S Bierbrauer, Beth M Kline-Fath. Pediatr Radiol 2022
Usha D Nagaraj, Charu Venkatesan, Karin S Bierbrauer, Beth M Kline-Fath. Pediatr Radiol 2022
50
Definitions and classification of malformations of cortical development: practical guidelines.
Mariasavina Severino, Ana Filipa Geraldo, Norbert Utz, Domenico Tortora, Ivana Pogledic, Wlodzimierz Klonowski, Fabio Triulzi, Filippo Arrigoni, Kshitij Mankad, Richard J Leventer,[...]. Brain 2020
Mariasavina Severino, Ana Filipa Geraldo, Norbert Utz, Domenico Tortora, Ivana Pogledic, Wlodzimierz Klonowski, Fabio Triulzi, Filippo Arrigoni, Kshitij Mankad, Richard J Leventer,[...]. Brain 2020
25
The Assessment of the Usefulness of Prenatal Magnetic Resonance Imaging in the Diagnosis of Central Nervous System Defects.
Magdalena Kołak, Izabela Herman-Sucharska, Małgorzata Radoń-Pokracka, Małgorzata Stolarek, Anna Horbaczewska, Hubert Huras. Diagnostics (Basel) 2021
Magdalena Kołak, Izabela Herman-Sucharska, Małgorzata Radoń-Pokracka, Małgorzata Stolarek, Anna Horbaczewska, Hubert Huras. Diagnostics (Basel) 2021
100
Fetal brain damage in congenital hydrocephalus.
Maria Florencia Varela, Marcos M Miyabe, Marc Oria. Childs Nerv Syst 2020
Maria Florencia Varela, Marcos M Miyabe, Marc Oria. Childs Nerv Syst 2020
50
Contemporary Profile of Seizures in Neonates: A Prospective Cohort Study.
Hannah C Glass, Renée A Shellhaas, Courtney J Wusthoff, Taeun Chang, Nicholas S Abend, Catherine J Chu, M Roberta Cilio, David V Glidden, Sonia L Bonifacio, Shavonne Massey,[...]. J Pediatr 2016
Hannah C Glass, Renée A Shellhaas, Courtney J Wusthoff, Taeun Chang, Nicholas S Abend, Catherine J Chu, M Roberta Cilio, David V Glidden, Sonia L Bonifacio, Shavonne Massey,[...]. J Pediatr 2016
25
Profile of neonatal epilepsies: Characteristics of a prospective US cohort.
Renée A Shellhaas, Courtney J Wusthoff, Tammy N Tsuchida, Hannah C Glass, Catherine J Chu, Shavonne L Massey, Janet S Soul, Natrujee Wiwattanadittakun, Nicholas S Abend, Maria Roberta Cilio. Neurology 2017
Renée A Shellhaas, Courtney J Wusthoff, Tammy N Tsuchida, Hannah C Glass, Catherine J Chu, Shavonne L Massey, Janet S Soul, Natrujee Wiwattanadittakun, Nicholas S Abend, Maria Roberta Cilio. Neurology 2017
25
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford,[...]. Epilepsia 2018
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford,[...]. Epilepsia 2018
25
Malformations of cortical development: diagnostic accuracy of fetal MR imaging.
Orit A Glenn, Addison A Cuneo, A James Barkovich, Zary Hashemi, Agnes I Bartha, Duan Xu. Radiology 2012
Orit A Glenn, Addison A Cuneo, A James Barkovich, Zary Hashemi, Agnes I Bartha, Duan Xu. Radiology 2012
25
Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.
Andrea Poretti, Eugen Boltshauser, Thierry A G M Huisman. Semin Neurol 2014
Andrea Poretti, Eugen Boltshauser, Thierry A G M Huisman. Semin Neurol 2014
25
The American Clinical Neurophysiology Society's Guideline on Continuous Electroencephalography Monitoring in Neonates.
Renée A Shellhaas, Taeun Chang, Tammy Tsuchida, Mark S Scher, James J Riviello, Nicholas S Abend, Sylvie Nguyen, Courtney J Wusthoff, Robert R Clancy. J Clin Neurophysiol 2011
Renée A Shellhaas, Taeun Chang, Tammy Tsuchida, Mark S Scher, James J Riviello, Nicholas S Abend, Sylvie Nguyen, Courtney J Wusthoff, Robert R Clancy. J Clin Neurophysiol 2011
25
Uncoupling of EEG-clinical neonatal seizures after antiepileptic drug use.
Mark S Scher, John Alvin, Lisa Gaus, Beth Minnigh, Michael J Painter. Pediatr Neurol 2003
Mark S Scher, John Alvin, Lisa Gaus, Beth Minnigh, Michael J Painter. Pediatr Neurol 2003
25
Morphometric analysis on T1-weighted MRI complements visual MRI review in focal cortical dysplasia.
Lily C Wong-Kisiel, Diego F Tovar Quiroga, Daniel L Kenney-Jung, Robert J Witte, Alexandra Santana-Almansa, Gregory A Worrell, Jeffrey Britton, Benjamin H Brinkmann. Epilepsy Res 2018
Lily C Wong-Kisiel, Diego F Tovar Quiroga, Daniel L Kenney-Jung, Robert J Witte, Alexandra Santana-Almansa, Gregory A Worrell, Jeffrey Britton, Benjamin H Brinkmann. Epilepsy Res 2018
25
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Katarzyna Kotulska, David J Kwiatkowski, Paolo Curatolo, Bernhard Weschke, Kate Riney, Floor Jansen, Martha Feucht, Pavel Krsek, Rima Nabbout, Anna C Jansen,[...]. Ann Neurol 2021
Katarzyna Kotulska, David J Kwiatkowski, Paolo Curatolo, Bernhard Weschke, Kate Riney, Floor Jansen, Martha Feucht, Pavel Krsek, Rima Nabbout, Anna C Jansen,[...]. Ann Neurol 2021
25
Disorders of prosencephalic development.
P Volpe, G Campobasso, V De Robertis, G Rembouskos. Prenat Diagn 2009
P Volpe, G Campobasso, V De Robertis, G Rembouskos. Prenat Diagn 2009
25
American clinical neurophysiology society standardized EEG terminology and categorization for the description of continuous EEG monitoring in neonates: report of the American Clinical Neurophysiology Society critical care monitoring committee.
Tammy N Tsuchida, Courtney J Wusthoff, Renée A Shellhaas, Nicholas S Abend, Cecil D Hahn, Joseph E Sullivan, Sylvie Nguyen, Steven Weinstein, Mark S Scher, James J Riviello,[...]. J Clin Neurophysiol 2013
Tammy N Tsuchida, Courtney J Wusthoff, Renée A Shellhaas, Nicholas S Abend, Cecil D Hahn, Joseph E Sullivan, Sylvie Nguyen, Steven Weinstein, Mark S Scher, James J Riviello,[...]. J Clin Neurophysiol 2013
25
A developmental and genetic classification for midbrain-hindbrain malformations.
A James Barkovich, Kathleen J Millen, William B Dobyns. Brain 2009
A James Barkovich, Kathleen J Millen, William B Dobyns. Brain 2009
25
Lissencephaly (agyria-pachygyria): clinical findings and serial EEG studies.
H Gastaut, N Pinsard, C Raybaud, J Aicardi, B Zifkin. Dev Med Child Neurol 1987
H Gastaut, N Pinsard, C Raybaud, J Aicardi, B Zifkin. Dev Med Child Neurol 1987
25
Malformations of Cortical Development: From Postnatal to Fetal Imaging.
Tally Lerman-Sagie, Zvi Leibovitz. Can J Neurol Sci 2016
Tally Lerman-Sagie, Zvi Leibovitz. Can J Neurol Sci 2016
25
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.