Steven Scherer

Steven Scherer

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Steven Scherer

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POLG mutations presenting as Charcot-Marie-Tooth disease.

J Peripher Nerv Syst 2019 Jun 10;24(2):213-218. Epub 2019 Apr 10.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/jns.12313DOI Listing
June 2019

Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in and .

Drug Metab Dispos 2019 04 11;47(4):425-435. Epub 2019 Feb 11.

Departments of Molecular Pharmacology and Experimental Therapeutics (S.D., I.M., M.-F.H., L.W., R.M.W., J.M.R.) and Health Sciences Research (N.B.L., S.J.B.), Personalized Genomics Laboratory, Department of Laboratory Medicine and Pathology (A.M.M., J.L.B.), and Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic Graduate School of Biomedical Sciences (D.R.N.), Mayo Clinic, Rochester, Minnesota; and Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas (S.E.S.)

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http://dx.doi.org/10.1124/dmd.118.084269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423619PMC
April 2019

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Neurol Genet 2019 Apr 1;5(2):e322. Epub 2019 Apr 1.

Department of Neuromuscular Diseases (A.H., A.C., M.G.H., M.M.R.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Molecular Neuroscience (A.M.P., H.H.), UCL Queen Square Institute of Neurology; Department of Neuro-ophthalmology (F.B.F.R.C.O.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Division of Neuropathology (Z.J., S.B.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Clinical and Movement Neurosciences (Z.J.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (L.D., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Human Genetics and Hussman Institute for Human Genomics (A.P.R., S.Z.), University of Miami, FL; Department of Neurogenetics (C.E.W., J.M.P.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Neurometabolic Unit (I.P.H.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; and Department of Neurodegenerative Disease (S.B.), UCL Queen Square Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639PMC
April 2019

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Neuromuscul Disord 2019 Feb 21;29(2):134-137. Epub 2018 Dec 21.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183108
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http://dx.doi.org/10.1016/j.nmd.2018.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415944PMC
February 2019

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy.

J Neuromuscul Dis 2019 ;6(3):385-387

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.3233/JND-190400DOI Listing
January 2019

Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E.

Exp Neurol 2018 10 22;308:13-25. Epub 2018 Jun 22.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2018.06.010DOI Listing
October 2018

Blood pressure signature genes and blood pressure response to thiazide diuretics: results from the PEAR and PEAR-2 studies.

BMC Med Genomics 2018 Jun 20;11(1):55. Epub 2018 Jun 20.

Center for Pharmacogenomics, Department of Pharmacotherapy and Translational Research, College of Pharmacy, University of Florida, P.O.Box 100484, Gainesville, FL, 32610-0486, USA.

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http://dx.doi.org/10.1186/s12920-018-0370-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011347PMC
June 2018

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

Hum Mutat 2018 05 14;39(5):635-642. Epub 2018 Mar 14.

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida.

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http://dx.doi.org/10.1002/humu.23412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903998PMC
May 2018

Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

Neurogenetics 2018 05 28;19(2):105-110. Epub 2018 Mar 28.

Department of Neurology, University of Pennsylvania, 330 South 9th Street, Second Floor, Philadelphia, PA, 19107, USA.

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http://dx.doi.org/10.1007/s10048-018-0544-xDOI Listing
May 2018

Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients From the PEAR Study (Pharmacogenomic Evaluation of Antihypertensive Responses).

Circ Genom Precis Med 2018 04;11(4):e001854

Department of Pharmacotherapy and Translational Research, Center for Pharmacogenomics (C.W.M., O.M., A.C.C.S., N.M.E.R., M.K.-S., M.S., J.G.G., R.M.C.-D., Y.G., J.A.J.), Department of Pharmaceutical Outcomes and Policy (C.D.), Department of Pharmaceutics, College of Pharmacy (A.N.D., R.S.P.S.), Genetics & Genomics Graduate Program, Genetics Institute (A.C.C.S., Y.S.), Department of Biology, College of Liberal Arts and Sciences (W.M.), Department of Community Health and Family Medicine, College of Medicine (J.G.G.), and Division of Cardiovascular Medicine, Department of Medicine (R.M.C.-D., J.A.J.), University of Florida, Gainesville; School of Pharmacy, College of Health Professions, Pacific University, Hillsboro, OR (M.K.-S.); Department of Clinical Pharmacy, Faculty of Pharmacy, Ain Shams University, Cairo, Egypt (M.S.); Division of Biomedical Statistics and Informatics, Department of Health Sciences Research (K.R.B.) and Division of Nephrology and Hypertension, Department of Medicine (S.T.T.), Mayo Clinic, Rochester, MN; Human Genetics Center, Institute of Molecular Medicine, University of Texas Health Science Center, Houston (E.B.); Section of Nephrology, Department of Medicine, University of Chicago, IL (A.B.C.); Department of Biomedical Informatics, Center for Pharmacogenomics (A.W.) and Department of Cancer Biology and Genetics, College of Medicine (W.S.), Ohio State University, Columbus; and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX (S.E.S.).

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http://dx.doi.org/10.1161/CIRCGEN.117.001854DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901893PMC
April 2018

Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.

Muscle Nerve 2018 03 21;57(3):388-394. Epub 2017 Jul 21.

Department of Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA.

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http://dx.doi.org/10.1002/mus.25742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762426PMC
March 2018

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

J Peripher Nerv Syst 2018 03 6;23(1):36-39. Epub 2018 Feb 6.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/jns.12248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851840PMC
March 2018

Nodes, paranodes and neuropathies.

J Neurol Neurosurg Psychiatry 2018 01 17;89(1):61-71. Epub 2017 Aug 17.

Department of Clinical Neurosciences, West Wing, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2016-315480DOI Listing
January 2018

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies.

Neurology 2018 01 29;90(1):e31-e38. Epub 2017 Nov 29.

From the Department of Neurology (E.B., K.R.P., C.Q., S.S.S., E.L.), University of Pennsylvania, Philadelphia; Department of Neurology (L.Y., H.Z.), Second Xiangya Hospital of Central South University, Changsha, China; and MRC Centre for Neuromuscular Diseases (M.M.R., A.M.R.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754648PMC
January 2018

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis.

J Neurol Neurosurg Psychiatry 2017 10 9;88(10):846-863. Epub 2017 Aug 9.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jnnp-2016-313960DOI Listing
October 2017

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Neurology 2017 Aug 2;89(9):927-935. Epub 2017 Aug 2.

From the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000004296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577965PMC
August 2017

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.

Sci Rep 2017 01 10;7:40166. Epub 2017 Jan 10.

Department of Neurology and Rehabilitation, College of Medicine, University of Illinois at Chicago, Chicago IL, USA.

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http://dx.doi.org/10.1038/srep40166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223219PMC
January 2017

Multifaceted biological insights from a draft genome sequence of the tobacco hornworm moth, Manduca sexta.

Authors:
Michael R Kanost Estela L Arrese Xiaolong Cao Yun-Ru Chen Sanjay Chellapilla Marian R Goldsmith Ewald Grosse-Wilde David G Heckel Nicolae Herndon Haobo Jiang Alexie Papanicolaou Jiaxin Qu Jose L Soulages Heiko Vogel James Walters Robert M Waterhouse Seung-Joon Ahn Francisca C Almeida Chunju An Peshtewani Aqrawi Anne Bretschneider William B Bryant Sascha Bucks Hsu Chao Germain Chevignon Jayne M Christen David F Clarke Neal T Dittmer Laura C F Ferguson Spyridoula Garavelou Karl H J Gordon Ramesh T Gunaratna Yi Han Frank Hauser Yan He Hanna Heidel-Fischer Ariana Hirsh Yingxia Hu Hongbo Jiang Divya Kalra Christian Klinner Christopher König Christie Kovar Ashley R Kroll Suyog S Kuwar Sandy L Lee Rüdiger Lehman Kai Li Zhaofei Li Hanquan Liang Shanna Lovelace Zhiqiang Lu Jennifer H Mansfield Kyle J McCulloch Tittu Mathew Brian Morton Donna M Muzny David Neunemann Fiona Ongeri Yannick Pauchet Ling-Ling Pu Ioannis Pyrousis Xiang-Jun Rao Amanda Redding Charles Roesel Alejandro Sanchez-Gracia Sarah Schaack Aditi Shukla Guillaume Tetreau Yang Wang Guang-Hua Xiong Walther Traut Tom K Walsh Kim C Worley Di Wu Wenbi Wu Yuan-Qing Wu Xiufeng Zhang Zhen Zou Hannah Zucker Adriana D Briscoe Thorsten Burmester Rollie J Clem René Feyereisen Cornelis J P Grimmelikhuijzen Stavros J Hamodrakas Bill S Hansson Elisabeth Huguet Lars S Jermiin Que Lan Herman K Lehman Marce Lorenzen Hans Merzendorfer Ioannis Michalopoulos David B Morton Subbaratnam Muthukrishnan John G Oakeshott Will Palmer Yoonseong Park A Lorena Passarelli Julio Rozas Lawrence M Schwartz Wendy Smith Agnes Southgate Andreas Vilcinskas Richard Vogt Ping Wang John Werren Xiao-Qiang Yu Jing-Jiang Zhou Susan J Brown Steven E Scherer Stephen Richards Gary W Blissard

Insect Biochem Mol Biol 2016 09 12;76:118-147. Epub 2016 Aug 12.

Boyce Thompson Institute at Cornell University, Tower Road, Ithaca, NY, 14853, USA.

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http://dx.doi.org/10.1016/j.ibmb.2016.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010457PMC
September 2016

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.

Neurology 2016 05 13;86(19):1762-71. Epub 2016 Apr 13.

From the Departments of Neurology, Peripheral Nerve Division (W.W., P.J.D., C.J.K.), Department of Health Science Research (C.W., S.B., J.M.E.), Laboratory Medicine and Pathology (D.B.D., E.C.T., P.A.L., Y.W., C.J.K.), Medical Genome Facility (B.W.E., Y.W.), and Medical Genetics (C.J.K., D.B.D.), Mayo Clinic, Rochester, MN; Department of Neurology (W.W.), China-Japan Friendship Hospital, Beijing, China; and Department of Neurology (S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000002659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862246PMC
May 2016

Differentially expressed gene transcripts using RNA sequencing from the blood of immunosuppressed kidney allograft recipients.

PLoS One 2015 6;10(5):e0125045. Epub 2015 May 6.

Minneapolis Medical Research Foundation, Minneapolis, Minnesota, United States of America; Department of Medicine, Hennepin County Medical Center, University of Minnesota, Minneapolis, Minnesota, United States of America; Department of Epidemiology and Community Health, University of Minnesota School of Medicine, Minneapolis, Minnesota, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0125045PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422721PMC
April 2016

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.

Proc Natl Acad Sci U S A 2016 Apr 28;113(17):E2421-9. Epub 2016 Mar 28.

Neuroscience Laboratory, Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus; Neurology Clinics, Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus

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http://dx.doi.org/10.1073/pnas.1522202113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855595PMC
April 2016

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.

J Neurol 2016 Mar 2;263(3):467-76. Epub 2016 Jan 2.

Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00415-015-7989-8DOI Listing
March 2016

Blocking bad.

Authors:
Steven S Scherer

Brain 2015 Nov;138(Pt 11):3132-3

Perelman School of Medicine at the University of Pennsylvania, USA

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http://dx.doi.org/10.1093/brain/awv279DOI Listing
November 2015

Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions.

Neurobiol Dis 2015 Oct 4;82:86-98. Epub 2015 Jun 4.

Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, 450 Stemmler Hall, 3450 Hamilton Walk, Philadelphia, PA USA 19104-6077. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09699961150019
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http://dx.doi.org/10.1016/j.nbd.2015.05.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640986PMC
October 2015

Subtype-specific therapy for autoimmune neuropathies?

Neurol Neuroimmunol Neuroinflamm 2015 Oct 24;2(5):e152. Epub 2015 Sep 24.

Department of Neurology, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/NXI.0000000000000152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582901PMC
October 2015

Caspr2 autoantibodies target multiple epitopes.

Neurol Neuroimmunol Neuroinflamm 2015 Aug 2;2(4):e127. Epub 2015 Jul 2.

Department of Neurology (A.L.O., Y.L., J.D., S.S.S., E.L.), The University of Pennsylvania, Philadelphia; and ICREA-IDIBAPS (J.D.), Hospital Unit, University of Barcelona, Spain.

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http://nn.neurology.org/lookup/doi/10.1212/NXI.0000000000000
Publisher Site
http://dx.doi.org/10.1212/NXI.0000000000000127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496632PMC
August 2015

A novel AARS mutation in a family with dominant myeloneuropathy.

Neurology 2015 May 22;84(20):2040-7. Epub 2015 Apr 22.

From the Department of Neurology (W.W.M., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Cellular and Molecular Biology Program (L.B.G., A.A.), Medical Science Training Program (L.B.G.), and the Departments of Human Genetics (A.A.) and Neurology (A.A.), University of Michigan Medical School, Ann Arbor; the Neurogenetics Group (I.M., J.B., P.D.J.) and the Molecular Neurogenomics Group (E.D.V., A.J.), VIB, Department of Molecular Genetics, University of Antwerp; the Neurogenetics Laboratory (I.M., J.B., E.D.V., P.D.J., A.J.), Institute Born-Bunge, University of Antwerp; and the Department of Neurology (J.B., P.D.J.), Antwerp University Hospital, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000001583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442103PMC
May 2015

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

Brain 2015 Apr 11;138(Pt 4):845-61. Epub 2015 Feb 11.

4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA 6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA 23 Department of Medical Genetics, Mayo Clinic Rochester MN, USA

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http://dx.doi.org/10.1093/brain/awv010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014076PMC
April 2015

The genomes of two key bumblebee species with primitive eusocial organization.

Authors:
Ben M Sadd Seth M Barribeau Guy Bloch Dirk C de Graaf Peter Dearden Christine G Elsik Jürgen Gadau Cornelis J P Grimmelikhuijzen Martin Hasselmann Jeffrey D Lozier Hugh M Robertson Guy Smagghe Eckart Stolle Matthias Van Vaerenbergh Robert M Waterhouse Erich Bornberg-Bauer Steffen Klasberg Anna K Bennett Francisco Câmara Roderic Guigó Katharina Hoff Marco Mariotti Monica Munoz-Torres Terence Murphy Didac Santesmasses Gro V Amdam Matthew Beckers Martin Beye Matthias Biewer Márcia M G Bitondi Mark L Blaxter Andrew F G Bourke Mark J F Brown Severine D Buechel Rossanah Cameron Kaat Cappelle James C Carolan Olivier Christiaens Kate L Ciborowski David F Clarke Thomas J Colgan David H Collins Andrew G Cridge Tamas Dalmay Stephanie Dreier Louis du Plessis Elizabeth Duncan Silvio Erler Jay Evans Tiago Falcon Kevin Flores Flávia C P Freitas Taro Fuchikawa Tanja Gempe Klaus Hartfelder Frank Hauser Sophie Helbing Fernanda C Humann Frano Irvine Lars S Jermiin Claire E Johnson Reed M Johnson Andrew K Jones Tatsuhiko Kadowaki Jonathan H Kidner Vasco Koch Arian Köhler F Bernhard Kraus H Michael G Lattorff Megan Leask Gabrielle A Lockett Eamonn B Mallon David S Marco Antonio Monika Marxer Ivan Meeus Robin F A Moritz Ajay Nair Kathrin Näpflin Inga Nissen Jinzhi Niu Francis M F Nunes John G Oakeshott Amy Osborne Marianne Otte Daniel G Pinheiro Nina Rossié Olav Rueppell Carolina G Santos Regula Schmid-Hempel Björn D Schmitt Christina Schulte Zilá L P Simões Michelle P M Soares Luc Swevers Eva C Winnebeck Florian Wolschin Na Yu Evgeny M Zdobnov Peshtewani K Aqrawi Kerstin P Blankenburg Marcus Coyle Liezl Francisco Alvaro G Hernandez Michael Holder Matthew E Hudson LaRonda Jackson Joy Jayaseelan Vandita Joshi Christie Kovar Sandra L Lee Robert Mata Tittu Mathew Irene F Newsham Robin Ngo Geoffrey Okwuonu Christopher Pham Ling-Ling Pu Nehad Saada Jireh Santibanez DeNard Simmons Rebecca Thornton Aarti Venkat Kimberly K O Walden Yuan-Qing Wu Griet Debyser Bart Devreese Claire Asher Julie Blommaert Ariel D Chipman Lars Chittka Bertrand Fouks Jisheng Liu Meaghan P O'Neill Seirian Sumner Daniela Puiu Jiaxin Qu Steven L Salzberg Steven E Scherer Donna M Muzny Stephen Richards Gene E Robinson Richard A Gibbs Paul Schmid-Hempel Kim C Worley

Genome Biol 2015 Apr 24;16:76. Epub 2015 Apr 24.

Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, MS BCM226, One Baylor Plaza, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1186/s13059-015-0623-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414376PMC
April 2015

A massive expansion of effector genes underlies gall-formation in the wheat pest Mayetiola destructor.

Curr Biol 2015 Mar 5;25(5):613-20. Epub 2015 Feb 5.

Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cub.2014.12.057DOI Listing
March 2015

The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima.

Authors:
Ariel D Chipman David E K Ferrier Carlo Brena Jiaxin Qu Daniel S T Hughes Reinhard Schröder Montserrat Torres-Oliva Nadia Znassi Huaiyang Jiang Francisca C Almeida Claudio R Alonso Zivkos Apostolou Peshtewani Aqrawi Wallace Arthur Jennifer C J Barna Kerstin P Blankenburg Daniela Brites Salvador Capella-Gutiérrez Marcus Coyle Peter K Dearden Louis Du Pasquier Elizabeth J Duncan Dieter Ebert Cornelius Eibner Galina Erikson Peter D Evans Cassandra G Extavour Liezl Francisco Toni Gabaldón William J Gillis Elizabeth A Goodwin-Horn Jack E Green Sam Griffiths-Jones Cornelis J P Grimmelikhuijzen Sai Gubbala Roderic Guigó Yi Han Frank Hauser Paul Havlak Luke Hayden Sophie Helbing Michael Holder Jerome H L Hui Julia P Hunn Vera S Hunnekuhl LaRonda Jackson Mehwish Javaid Shalini N Jhangiani Francis M Jiggins Tamsin E Jones Tobias S Kaiser Divya Kalra Nathan J Kenny Viktoriya Korchina Christie L Kovar F Bernhard Kraus François Lapraz Sandra L Lee Jie Lv Christigale Mandapat Gerard Manning Marco Mariotti Robert Mata Tittu Mathew Tobias Neumann Irene Newsham Dinh N Ngo Maria Ninova Geoffrey Okwuonu Fiona Ongeri William J Palmer Shobha Patil Pedro Patraquim Christopher Pham Ling-Ling Pu Nicholas H Putman Catherine Rabouille Olivia Mendivil Ramos Adelaide C Rhodes Helen E Robertson Hugh M Robertson Matthew Ronshaugen Julio Rozas Nehad Saada Alejandro Sánchez-Gracia Steven E Scherer Andrew M Schurko Kenneth W Siggens DeNard Simmons Anna Stief Eckart Stolle Maximilian J Telford Kristin Tessmar-Raible Rebecca Thornton Maurijn van der Zee Arndt von Haeseler James M Williams Judith H Willis Yuanqing Wu Xiaoyan Zou Daniel Lawson Donna M Muzny Kim C Worley Richard A Gibbs Michael Akam Stephen Richards

PLoS Biol 2014 Nov 25;12(11):e1002005. Epub 2014 Nov 25.

Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.1002005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244043PMC
November 2014

Kv7.2 regulates the function of peripheral sensory neurons.

J Comp Neurol 2014 Oct 12;522(14):3262-80. Epub 2014 Apr 12.

Department of Neuroscience, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104.

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http://dx.doi.org/10.1002/cne.23595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428907PMC
October 2014

A new mutation in GJC2 associated with subclinical leukodystrophy.

J Neurol 2014 Oct 25;261(10):1929-38. Epub 2014 Jul 25.

Departments of Neurology and Physiology and Pharmacology, SUNY Downstate, 450 Clarkson Avenue, Brooklyn, NY, 11203, USA,

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http://dx.doi.org/10.1007/s00415-014-7429-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301586PMC
October 2014

Ranvier revisited: novel nodal antigens stimulate interest in GBS pathogenesis.

Neurology 2014 Jul 11;83(2):106-8. Epub 2014 Jun 11.

From the College of Medicine (H.W.), Veterinary Medicine and Life Sciences, University of Glasgow, UK; and Department of Neurology (S.S.S.), The Perelman School of Medicine at the University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000000581DOI Listing
July 2014

Activated microglia do not form functional gap junctions in vivo.

J Neuroimmunol 2014 Apr 13;269(1-2):90-3. Epub 2014 Feb 13.

Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jneuroim.2014.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4048983PMC
April 2014

Modality-based organization of ascending somatosensory axons in the direct dorsal column pathway.

J Neurosci 2013 Nov;33(45):17691-709

Department of Neuroscience and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, Shriners Hospital Pediatric Research Center and Department of Anatomy and Cell Biology, Temple University School of Medicine, Philadelphia, Pennsylvania 19140, Department of Neurology, the First People's Hospital of Chenzhou, Chenzhou, Hunan, China, Retinal Circuit Development & Genetics Unit, National Eye Institute, Bethesda, Maryland 20892, and Department of Medical Sciences, School of Veterinary Medicine, University of Wisconsin, Madison, Wisconsin 53706.

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http://dx.doi.org/10.1523/JNEUROSCI.3429-13.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818546PMC
November 2013

How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

Brain Res 2012 Dec 6;1487:198-205. Epub 2012 Jul 6.

Neurology Clinics and Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

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http://dx.doi.org/10.1016/j.brainres.2012.03.068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488165PMC
December 2012

X-linked Charcot-Marie-Tooth disease.

J Peripher Nerv Syst 2012 Dec;17 Suppl 3:9-13

Department of Neurology, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00424.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3779456PMC
December 2012

Gap junctions in inherited human disorders of the central nervous system.

Biochim Biophys Acta 2012 Aug 16;1818(8):2030-47. Epub 2011 Aug 16.

Department of Neurology and Physiology & Pharmacology, SUNY Downstate Medical Center, Brooklyn, NY 11203, USA.

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http://dx.doi.org/10.1016/j.bbamem.2011.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771870PMC
August 2012

Neuronal cadherin (NCAD) increases sensory neurite formation and outgrowth on astrocytes.

Neurosci Lett 2012 Aug 12;522(2):108-12. Epub 2012 Jun 12.

Department of Neurology, Temple University and Shriners Pediatric Research Center, Philadelphia, PA 19140, USA.

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http://dx.doi.org/10.1016/j.neulet.2012.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784833PMC
August 2012

Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey.

Authors:
Steven Scherer

Muscle Nerve 2012 Aug;46(2):295-6; author reply 296

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http://dx.doi.org/10.1002/mus.23329DOI Listing
August 2012

Kv7.5 is the primary Kv7 subunit expressed in C-fibers.

J Comp Neurol 2012 Jun;520(9):1940-50

Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/cne.23019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439280PMC
June 2012

Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.

BMC Med Genomics 2012 Feb 21;5. Epub 2012 Feb 21.

Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, U.O.S. Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, Fondazione IRCCS Cà Granda - Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1186/1755-8794-5-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3305575PMC
February 2012

The debut of a rational treatment for an inherited neuropathy?

Authors:
Steven S Scherer

J Clin Invest 2011 Dec;121(12):4624-7

Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104-6077, USA.

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http://dx.doi.org/10.1172/JCI60511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3226011PMC
December 2011

Microtubules, axonal transport, and neuropathy.

N Engl J Med 2011 Dec;365(24):2330-2

Department of Physiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

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http://www.nejm.org/doi/abs/10.1056/NEJMcibr1112481
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http://dx.doi.org/10.1056/NEJMcibr1112481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776444PMC
December 2011

The in vivo contribution of motor neuron TrkB receptors to mutant SOD1 motor neuron disease.

Hum Mol Genet 2011 Nov 4;20(21):4116-31. Epub 2011 Aug 4.

Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/hmg/ddr335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3218642PMC
November 2011

Paranodal permeability in "myelin mutants".

Glia 2011 Oct 26;59(10):1447-57. Epub 2011 May 26.

Department Physiology & Neuroscience, NYU School of Medicine, New York, New York, USA.

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http://dx.doi.org/10.1002/glia.21188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143265PMC
October 2011

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

J Peripher Nerv Syst 2011 Sep;16(3):191-8

MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1111/j.1529-8027.2011.00350.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3754828PMC
September 2011

Central nervous system dysfunction in a mouse model of FA2H deficiency.

Glia 2011 Jul 13;59(7):1009-21. Epub 2011 Apr 13.

Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, South Carolina 29425, USA.

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http://dx.doi.org/10.1002/glia.21172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3094470PMC
July 2011

Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.

Mol Cell Neurosci 2011 Jun 30;47(2):71-8. Epub 2010 Oct 30.

Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, USA.

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http://dx.doi.org/10.1016/j.mcn.2010.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132585PMC
June 2011

Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling.

Neurobiol Dis 2011 Jun 8;42(3):506-13. Epub 2011 Mar 8.

Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104–6077, USA.

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http://dx.doi.org/10.1016/j.nbd.2011.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773476PMC
June 2011

CMT2A: the name doesn't tell the whole story.

Authors:
Steven S Scherer

Neurology 2011 May 20;76(20):1686-7. Epub 2011 Apr 20.

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http://dx.doi.org/10.1212/WNL.0b013e31821bcc42DOI Listing
May 2011

A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes.

Neuron Glia Biol 2010 Nov 4;6(4):213-23. Epub 2011 Mar 4.

Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6077, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848784PMC
November 2010

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.

J Neuropathol Exp Neurol 2010 Sep;69(9):945-58

Neuroscience Laboratory and Neurology Clinics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

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http://dx.doi.org/10.1097/NEN.0b013e3181efa658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3034224PMC
September 2010

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

Neurobiol Dis 2010 May 21;38(2):226-36. Epub 2010 Jan 21.

Division of Neurology, The Children's Hospital of Philadelphia, Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.nbd.2010.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2868926PMC
May 2010

A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.

Muscle Nerve 2010 Apr;41(4):555-8

Department of Neurology, University of Pennsylvania Medical Center, 3400 Spruce Street, 3W Gates Neurology, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/mus.21546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847649PMC
April 2010

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Ann Neurol 2009 Dec;66(6):759-70

Section of Neurology, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA.

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http://dx.doi.org/10.1002/ana.21728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439312PMC
December 2009

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Brain 2009 Feb 4;132(Pt 2):426-38. Epub 2008 Dec 4.

Department of Neurology, University of Pennsylvania School of Medicine, Room 464 Stemmler Hall, Philadelphia, PA 19104-6077, USA.

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http://dx.doi.org/10.1093/brain/awn328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640216PMC
February 2009

Somatic mutations affect key pathways in lung adenocarcinoma.

Nature 2008 Oct;455(7216):1069-75

The Genome Center at Washington University, Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63108, USA.

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http://dx.doi.org/10.1038/nature07423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694412PMC
October 2008