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Richard Leventer

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Ryan J Taft; Marjo S van der Knaap; Adeline Vanderver; Ishwar C Verma; Truus E M Abbink; Marianna R Bevova; Susan Blaser; Joanna Crawford; Stephen A Damiani; Irenaeus F M de Coo; Sean M Grimmond; Monica Juneja; Richard J Leventer; Paul J Lockhart; David Miller; Kate Pope; Petra J W Pouwels; Prab Prabhakar; Julian Raiman; Tena Rosser; Kelin Ru; Johanna Schmidt; Cas Simons; Nicole I Wolf
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity.
Eyal Reinstein; David L Rimoin; Joaquín Arcas; Montserrat Bret Zurita; Brian Coppin; Sophia Frentz; Sixto García-Miñaúr; John M Graham; Muriel Holder-Espinasse; Margaret Horton; Richard J Leventer; George McGillivray; Carmen Morales; Tim Morgan; Mitchel Pariani; Michael Pope; Terry Robertson; Yuri Rodrigues; Jose I Rodríguez; Anand Saggar; Richard Scott; Robert Siegel; Elizabeth M Thompson; Anthony van der Steen; Elaine Zackai; Stephen P Robertson
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Simone Mandelstam; George McGillivray; S Robertson; A Sandow; Samuel F Berkovic; Renzo Guerrini; Graeme D Jackson; Richard J Leventer; M van Kogelenberg; Ingrid E Scheffer
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.

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All Publications

2013: Ryan J Taft; Marjo S van der Knaap; Adeline Vanderver; Ishwar C Verma; Truus E M Abbink; Marianna R Bevova; Susan Blaser; Joanna Crawford; Stephen A Damiani; Irenaeus F M de Coo; Sean M Grimmond; Monica Juneja; Richard J Leventer; Paul J Lockhart; David Miller; Kate Pope; Petra J W Pouwels; Prab Prabhakar; Julian Raiman; Tena Rosser; Kelin Ru; Johanna Schmidt; Cas Simons; Nicole I Wolf
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity.
American journal of human genetics 2013;92(5):774-80.
2013: Eyal Reinstein; David L Rimoin; Joaquín Arcas; Montserrat Bret Zurita; Brian Coppin; Sophia Frentz; Sixto García-Miñaúr; John M Graham; Muriel Holder-Espinasse; Margaret Horton; Richard J Leventer; George McGillivray; Carmen Morales; Tim Morgan; Mitchel Pariani; Michael Pope; Terry Robertson; Yuri Rodrigues; Jose I Rodríguez; Anand Saggar; Richard Scott; Robert Siegel; Elizabeth M Thompson; Anthony van der Steen; Elaine Zackai; Stephen P Robertson
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
European journal of human genetics : EJHG 2013;21(5):494-502.
2013: Simone Mandelstam; George McGillivray; S Robertson; A Sandow; Samuel F Berkovic; Renzo Guerrini; Graeme D Jackson; Richard J Leventer; M van Kogelenberg; Ingrid E Scheffer
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.
AJNR. American journal of neuroradiology 2013;34(2):432-8.
2013: Vanessa Siffredi; Vicki Anderson; Richard J Leventer; Megan M Spencer-Smith
Neuropsychological profile of agenesis of the corpus callosum: a systematic review.
Developmental neuropsychology 2013;38(1):36-57.
2012: Tiziana Pisano; Stephen Robertson; Felix Rosenow; Ingrid E Scheffer; Waney Squier; Pierre Thomas; Gaetano Tortorella; Eva Andermann; Frederick Andermann; A James Barkovich; Samuel F Berkovic; Susan Blaser; William B Dobyns; Richard J Leventer; Carla Marini; George McGillivray; Elena Parrini; Renzo Guerrini
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.
Neurology 2012;79(12):1244-51.
2012: Melanie J Percy; Robert Wynn; Chris Barnes; Gemma Crighton; Richard J Leventer; Terence R Lappin
Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.
Journal of pediatric hematology/oncology 2012;34(6):457-60.
2012: Daniel Carranza Rojo; John A Damiano; Leanne M Dibbens; Jeremy L Freeman; Deepak Gill; Xenia Iona; Richard J Leventer; Jacinta M McMahon; Todor Arsov; Samuel F Berkovic; A Simon Harvey; Angela Vincent; Ingrid E Scheffer
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
Epilepsy research 2012;100(1-2):194-8.
2011: Tiong Yang Tan; Damien L Bruno; Trent Burgess; Amanda Collins; John A Crolla; Peter G Farlie; Robin Forbes; Devika Ganesamoorthy; Christopher Gordon; Paul A James; Richard J Leventer; George McGillivray; Kate Pope; Howard R Slater; Zornitza Stark; David J Amor
Phenotypic variability of distal 22q11.2 copy number abnormalities.
American journal of medical genetics. Part A 2011;155A(7):1623-33.
2011: Brian Long; Megan M Spencer-Smith; Rani Jacobs; Mark Mackay; Richard J Leventer; Chris Barnes; Vicki Anderson
Executive function following child stroke: the impact of lesion location.
Journal of child neurology 2011;26(3):279-87.
2011: Brian Long; Mark Mackay; Vicki Anderson; Chris Barnes; Rani Jacobs; Richard J Leventer; Megan Spencer-Smith
Executive function following child stroke: the impact of lesion size.
Developmental neuropsychology 2011;36(8):971-87.
2011: Katherine R Smith; Richard J Smith; David J Amor; Catherine J Bromhead; Michael S Hildebrand; Richard J Leventer; Paul J Lockhart; George McGillivray; Hossein Najmabadi; A Eliot Shearer; Melanie Bahlo
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.
Genome biology 2011;12(9):R85.
2010: Kate M Lawrence; Davide Mei; Mark R Newton; Richard J Leventer; Renzo Guerrini; Samuel F Berkovic
Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria.
Epilepsia 2010;51(9):1902-5.
2010: Vicki Anderson; Rani Jacobs; Megan Spencer-Smith; Lee Coleman; Peter Anderson; Jackie Williams; Mardee Greenham; Richard J Leventer
Does early age at brain insult predict worse outcome? Neuropsychological implications.
Journal of pediatric psychology 2010;35(7):716-27.
2010: Vicki Anderson; Megan Spencer-Smith; Lee Coleman; Peter Anderson; Jackie Williams; Mardee Greenham; Richard J Leventer; Rani Jacobs
Children's executive functions: are they poorer after very early brain insult.
Neuropsychologia 2010;48(7):2041-50.
2010: Richard J Leventer; Anna Jansen; Daniela T Pilz; Neil Stoodley; Carla Marini; Francois Dubeau; Jodie Malone; L Anne Mitchell; Simone Mandelstam; Ingrid E Scheffer; Samuel F Berkovic; Frederick Andermann; Eva Andermann; Renzo Guerrini; William B Dobyns
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Brain : a journal of neurology 2010;133(Pt 5):1415-27.
2009: Megan Spencer-Smith; Richard J Leventer; Rani Jacobs; Cinzia D E Luca; Vicki Anderson
Neuropsychological profile of children with subcortical band heterotopia.
Developmental medicine and child neurology 2009;51(11):909-16.
2009: Martin B Delatycki; Richard J Leventer
Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.
European journal of human genetics : EJHG 2009;17(6):701-2.
2009: Vicki Anderson; Megan Spencer-Smith; Richard J Leventer; Lee Coleman; Peter Anderson; Jackie Williams; Mardee Greenham; Rani Jacobs
Childhood brain insult: can age at insult help us predict outcome?
Brain : a journal of neurology 2009;132(Pt 1):45-56.
2008: William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher Walsh; Richard J Leventer; Christa Lese Martin; Marzena Gajecka; Lisa Shaffer
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
American journal of medical genetics. Part A 2008;146A(13):1637-54.
2008: Elisa Merello; Eric Swanson; Patrizia De Marco; Murtaza Akhter; Pasquale Striano; Andrea Rossi; Armando Cama; Richard J Leventer; Renzo Guerrini; Valeria Capra; William B Dobyns
No major role for the EMX2 gene in schizencephaly.
American journal of medical genetics. Part A 2008;146A(9):1142-50.
2008: Jayasri Srinivasan; Richard J Leventer; Andrew J Kornberg; Henrik H Dahl; Monique M Ryan
Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation.
Pediatric neurology 2008;38(4):293-5.
2008: Richard J Leventer; Renzo Guerrini; William B Dobyns
Malformations of cortical development and epilepsy.
Dialogues in clinical neuroscience 2008;10(1):47-62.
2007: Katherine B Howell; Jithangi Wanigasinghe; Richard J Leventer; Monique M Ryan
Concomitant transverse myelitis and acute motor axonal neuropathy in an adolescent.
Pediatric neurology 2007;37(5):378-81.
2006: Nathaniel H Robin; Clare J Taylor; Donna M McDonald-McGinn; Elaine H Zackai; Peter M Bingham; Kevin J Collins; Dawn Earl; Deepak Gill; Tiziana Granata; Renzo Guerrini; Naomi Katz; Virginia E Kimonis; Jean-Pierre Lin; David R Lynch; Shehla N Mohammed; Roger F Massey; Marie McDonald; R. Curtis Rogers; Miranda Splitt; Cathy A Stevens; Marc Tischkowitz; Neil Stoodley; Richard J Leventer; Daniela T Pilz; William B Dobyns
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
American journal of medical genetics. Part A 2006;140(22):2416-25.
2005: Gretchen Wieck; Richard J Leventer; Waney M Squier; An Jansen; Eva Andermann; Francois Dubeau; Anna Ramazzotti; Renzo Guerrini; William B Dobyns
Periventricular nodular heterotopia with overlying polymicrogyria.
Brain : a journal of neurology 2005;128(Pt 12):2811-21.
2005: Richard J Leventer
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.
Journal of child neurology 2005;20(4):307-12.
2003: Kazuhito Toyo-Oka; Aki Shionoya; Michael J Gambello; Carlos Cardoso; Richard J Leventer; Heather L Ward; Ramses Ayala; Li-Huei Tsai; William B Dobyns; David Ledbetter; Shinji Hirotsune; Anthony Wynshaw-Boris
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
Nature genetics 2003;34(3):274-85.
2003: Carlos Cardoso; Richard J Leventer; Heather L Ward; Kazuhito Toyo-Oka; June Chung; Alyssa Gross; Christa Lese Martin; Judith E Allanson; Daniela T Pilz; Ann H Olney; Osvaldo M Mutchinick; Shinji Hirotsune; Anthony Wynshaw-Boris; William B Dobyns; David Ledbetter
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
American journal of human genetics 2003;72(4):918-30.
2002: Miyoko Saito; Nicholas J H Sharp; Gregg D Kortz; Alexander de Lahunta; Richard J Leventer; Mikihiko Tokuriki; Donald E Thrall
Magnetic resonance imaging features of lissencephaly in 2 Lhasa Apsos.
Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association 2002;43(4):331-7.
2002: Laurent Villard; Karine Nguyen; Carlos Cardoso; Christa Lese Martin; Ann M Weiss; Mara Sifry-Platt; Arthur W Grix; John M Graham; Robin M Winter; Richard J Leventer; William B Dobyns
A locus for bilateral perisylvian polymicrogyria maps to Xq28.
American journal of human genetics 2002;70(4):1003-8.
2002: Carlos Cardoso; Richard J Leventer; James Dowling; Heather L Ward; June Chung; Kristin S Petras; Jessica A Roseberry; Ann M Weiss; Soma Das; Christa Lese Martin; Daniela T Pilz; William B Dobyns; David Ledbetter
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Human mutation 2002;19(1):4-15.
2001: Richard J Leventer; Carlos Cardoso; David Ledbetter; William B Dobyns
LIS1: from cortical malformation to essential protein of cellular dynamics.
Trends in neurosciences 2001;24(9):489-92.
2001: Richard J Leventer; Carlos Cardoso; David Ledbetter; William B Dobyns
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Neurology 2001;57(3):416-22.
2001: N Matsumoto; Richard J Leventer; JA Kuc; Stephanie Mewborn; LL Dudlicek; Melissa B Ramocki; Daniela T Pilz; PL Mills; Soma Das; M Elizabeth Ross; David Ledbetter; William B Dobyns
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
European journal of human genetics : EJHG 2001;9(1):5-12.
2000: Carlos Cardoso; Richard J Leventer; N Matsumoto; JA Kuc; Melissa B Ramocki; Stephanie Mewborn; LL Dudlicek; L F May; PL Mills; Soma Das; Daniela T Pilz; William B Dobyns; David Ledbetter
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Human molecular genetics 2000;9(20):3019-28.
2000: David J Amor; Richard J Leventer; S Hayllar; Agnes Bankier
Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.
American journal of medical genetics 2000;93(4):328-34.
2000: Richard J Leventer; Daniela T Pilz; N Matsumoto; David Ledbetter; William B Dobyns
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Molecular medicine today 2000;6(7):277-84.
2000: Richard J Leventer; PL Mills; William B Dobyns
X-linked malformations of cortical development.
American journal of medical genetics 2000;97(3):213-20.
1999: Richard J Leventer; EM Phelan; Lee Coleman; Michael J Kean; Graeme D Jackson; A Simon Harvey
Clinical and imaging features of cortical malformations in childhood.
Neurology 1999;53(4):715-22.
1998: Richard J Leventer; A Simon Harvey
Cortical malformations: a significant cause of paediatric neurological morbidity.
Journal of paediatrics and child health 1998;34(1):6-8.
1998: Richard J Leventer; Andrew J Kornberg; Lee Coleman; EM Phelan; Michael J Kean
Stroke and fibromuscular dysplasia: confirmation by renal magnetic resonance angiography.
Pediatric neurology 1998;18(2):172-5.
1997: Richard J Leventer; Andrew J Kornberg; EM Phelan; Michael J Kean
Early magnetic resonance imaging findings in Menkes' disease.
Journal of child neurology 1997;12(3):222-4.