PedroManciasMD

PubMed

• 1 citations
  Strategies to Support Social Justice Activism in Medical School.
  Asia T McCleary-Gaddy, Pedro Mancias> ;Academic Medicine. 2022 Dec 1
• 2 citations
  Identification of a novel microdeletion causative of Nance-Horan syndrome.
  Mariana Lopez Martinolich, Hope Northrup, Pedro Mancias, Paul Hillman, Kavya Rao, Kate Mowrey> ;Molecular Genetics & Genomic Medicine. 2022 Mar 1
• 37 citations
  Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models
  Kathryn H. Morelli, Laurie B. Griffin, Nettie K. Pyne, Lindsay M. Wallace, Allison M. Fowler, Stephanie N. Oprescu, Ryuichi Takase, Na Wei, Rebecca Meyer-Schuman, Datt...> ;The Journal of Clinical Investigation. 2019 Dec 2
• 4 citations
  Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions:
  Sara Wofford, Sarah Noblin, Jessica M. Davis, Laura S. Farach, S. Shahrukh Hashmi, Pedro Mancias, Victoria F. Wagner> ;Journal of Child Neurology. 2019 Jan 4
• 5 citations
  Transverse Myelitis and Guillain-Barré Syndrome Associated with Cat-Scratch Disease, Texas, USA, 2011
  Ramia Zakhour, Pedro Mancias, Gloria Heresi, Norma Pérez> ;Emerging Infectious Diseases. 2018 Sep 1
• 18 citations
  Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.
  Nicolai Preisler, Jonathan C. Cohen, Christoffer Rasmus Vissing, Karen Lindhardt Madsen, Katja Heinicke, Lydia Sharp, Lauren Phillips, Nadine Romain, Sun Young Park, M...> ;Molecular Genetics and Metabolism. 2017 Nov 1
• 83 citations
  The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
  Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine ...> ;Genetics in Medicine. 2017 Jan 1
• 166 citations
  Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR1‐ and SOD1‐linked ALS
  Seiji Watanabe, Hristelina Ilieva, Hiromi Tamada, Hanae Nomura, Okiru Komine, Fumito Endo, Shijie Jin, Pedro Mancias, Hiroshi Kiyama, Koji Yamanaka> ;EMBO Molecular Medicine. 2016 Dec 1
• 182 citations
  Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
  Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N....> ;Cell Reports. 2015 Aug 18
• 46 citations
  Sural sparing pattern discriminates Guillain–Barré syndrome from its mimics
  Angelika Derksen, Christian Ritter, Parveen Athar, Bernd C. Kieseier, Pedro Mancias, Hans-Peter Hartung, Kazim A. Sheikh, Helmar C. Lehmann> ;Muscle & Nerve. 2014 Sep 24
• 6 citations
  Cerebral sinovenous thrombosis associated with iron deficiency anemia secondary to severe menorrhagia: a case report.
  Fernando F. Corrales-Medina, Leon Grant, Daniela Egas-Bejar, Zoila Valdivia-Ascuna, Nidra I Rodriguez, Pedro Mancias> ;Journal of Child Neurology. 2014 Sep 1
• 11 citations
  Dysferlinopathy Presenting as Rhabdomyolysis and Acute Renal Failure
  Shade B. Moody, Pedro Mancias> ;Journal of Child Neurology. 2013 Apr 1
• 36 citations
  Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations
  Kinga Szigeti, Wojciech Wiszniewski, Gulam Mustafa Saifi, Diane L. Sherman, Norbert Sule, Adekunle M. Adesina, Pedro Mancias, Sozos Ch. Papasozomenos, Geoffrey P. Mill...> ;Neurogenetics. 2007 Aug 24
• 287 citations
  MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
  Kristien Verhoeven, Kristl Claeys, Stephan Züchner, J. Michael Schröder, Joachim Weis, Chantal Ceuterick, Albena Jordanova, Eva Nelis, Els De Vriendt, Matthias Van Hul...> ;Brain. 2006 Aug 1
• 7 citations
  Living-donor nerve transplantation for global obstetric brachial plexus palsy.
  Scott A. Gruber, Pedro Mancias, Rita D Swinford, Heather R. Prashner, Jorge Clifton, Mark Henry> ;Journal of Reconstructive Microsurgery. 2006 May 1
• 76 citations
  SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
  Gulam Mustafa Saifi, Kinga Szigeti, Wojciech Wiszniewski, Michael E. Shy, Karen M. Krajewski, Irena Hausmanowa-Petrusewicz, Andrzej Kochański, Suzanne Reeser, Pedro Ma...> ;Human Mutation. 2005 Apr 1
• 21 citations
  Poliomyelitis-like syndrome in a child with west nile virus infection
  Gloria P Heresi, Pedro Mancias, Lynnette J Mazur, Ian J. Butler, James R. Murphy, Thomas G. Cleary> ;The Pediatric Infectious Disease Journal. 2004 Aug 1
• 337 citations
  Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
  Ken Inoue, Mehrdad Khajavi, Tomoko Ohyama, Shin ichi Hirabayashi, John T. Wilson, James D. Reggin, Pedro Mancias, Ian J. Butler, Miles F. Wilkinson, Michael Wegner, Ja...> ;Nature Genetics. 2004 Mar 7
• 2 citations
  Trigeminal myokymia in a young girl.
  Pedro Mancias, Ian J. Butler> ;Journal of Child Neurology. 2003 Aug 1
• 49 citations
  CMT4A: identification of a Hispanic GDAP1 founder mutation.
  Cornelius F. Boerkoel, Hiroshi Takashima, Masanori Nakagawa, Shuji Izumo, Dawna L. Armstrong, Ian J. Butler, Pedro Mancias, Sozos Papasozomenos, Lawrence Z. Stern, Jam...> ;Annals of Neurology. 2003 Mar 1
• 47 citations
  Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
  Michael E. Shy, Grace M. Hobson, Manisha Jain, Odile Boespflug-Tanguy, James Y. Garbern, Karen Sperle, Wen Li, Alexander Gow, Diana Rodriguez, Enrico Bertini, Pedro Ma...> ;Annals of Neurology. 2003 Mar 1
• 197 citations
  Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
  Cornelius F. Boerkoel, Hiroshi Takashima, Carlos A. Garcia, Richard K. Olney, John L. Johnson, Katherine Berry, Paul Russo, Shelley J. Kennedy, Ahmad S. Teebi, Mena Sc...> ;Annals of Neurology. 2002 Feb 1
• Lumbar spinal stenosis causing congenital clubfoot.
  Yu-tze Ng, Pedro Mancias, Ian J. Butler> ;Journal of Child Neurology. 2002 Jan 1
• 35 citations
  Brain plasticity for sensory and linguistic functions: a functional imaging study using magnetoencephalography with children and young adults.
  Andrew C. Papanicolaou, Panagiotis G. Simos, Joshua I. Breier, James W. Wheless, Pedro Mancias, James E. Baumgartner, William W. Maggio, William B. Gormley, Jules E. C...> ;Journal of Child Neurology. 2001 Apr 1
• 6 citations
  Human bHLH transcription factor gene myogenin (MYOG): genomic sequence and negative mutation analysis in patients with severe congenital myopathies.
  Brian S. Tseng, Sash T. Cavin, Eric P. Hoffman, Susan T. Iannaccone, Pedro Mancias, Frank W. Booth, Ian J. Butler> ;Genomics. 1999 May 1
• Join now to see all