Most cited papers in Hereditary Neurological Disorders
What are the most cited papers in Hereditary Neurological Disorders?
The most cited paper in Hereditary Neurological Disorders is "The Calpain System" (Darrel E. Goll, Valery F. Thompson, Hongqi Li et al., 2003), with 2,837 citations. Next come "Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy" (2,411) and "Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders" (2,024).
Showing 50 of 100 papers. Every paper with more than 521 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | The Calpain System Darrel E. Goll, Valery F. Thompson, Hongqi Li et al. · Physiological Reviews | Jul 2003 | 2,837 |
| 2 | Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy Jerry R. Mendell et al. · New England Journal of Medicine | Nov 2017 | 2,411 |
| 3 | Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders Yaping Yang et al. · New England Journal of Medicine | 2 Oct 2013 | 2,024 |
| 4 | Assessment of current diagnostic criteria for Guillain-Barr� syndrome Arthur K. Asbury, David R. Cornblath · Annals of Neurology | 1990 | 1,921 |
| 5 | Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System Nicole Baumann, Danielle Pham-Dinh · Physiological Reviews | Apr 2001 | 1,815 |
| 6 | Guillain-Barré syndrome Richard AC Hughes, David R. Cornblath · The Lancet | Nov 2005 | 1,690 |
| 7 | Guillain-Barré syndrome Hugh John Willison, Bart C. Jacobs, Pieter A. van Doorn · The Lancet | 2 Mar 2016 | 1,606 |
| 8 | Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A Stephan L. Zuchner et al. · Nature Genetics | 4 Apr 2004 | 1,593 |
| 9 | Population frequencies of inherited neuromuscular diseases—A world survey Alan E H Emery · Neuromuscular Disorders | 1991 | 1,463 |
| 10 | Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing Yaping Yang et al. · JAMA | 18 Oct 2014 | 1,427 |
| 11 | Neurofilament light chain as a biomarker in neurological disorders Lorenzo Gaetani, Kaj Blennow, Paolo Calabresi et al. · Journal of Neurology Neurosurgery & Psychiatry | 9 Apr 2019 | 1,390 |
| 12 | DNA duplication associated with Charcot-Marie-Tooth disease type 1A James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt et al. · Cell | Jul 1991 | 1,338 |
| 13 | Diagnostic criteria for multiple sclerosis Charles M. Poser, Vesna V Brinar · Clinical Neurology and Neurosurgery | Apr 2001 | 1,292 |
| 14 | Genetic basis for individual variations in pain perception and the development of a chronic pain condition Luda B. Diatchenko, Gary D. Slade, Andrea G. Nackley et al. · Human Molecular Genetics | 10 Nov 2004 | 1,288 |
| 15 | Guillain–Barré Syndrome Nobuhiro Yuki, Hans‐Peter Hartung · New England Journal of Medicine | 14 Jun 2012 | 1,265 |
| 16 | Validity and reliability of a rating scale for the primary torsion dystonias Robert E. Burke, Stanley Fahn, C. DAVID MARSDEN et al. · Neurology | 1985 | 1,131 |
| 17 | Guillain–Barré syndrome: pathogenesis, diagnosis, treatment and prognosis Bianca van den Berg, Christa Walgaard, Judith Drenthen et al. · Nature Reviews Neurology | 15 Jul 2014 | 1,100 |
| 18 | Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia Alexandra Dürr, Mireille Cossée, Yves Agid et al. · New England Journal of Medicine | 17 Oct 1996 | 1,084 |
| 19 | Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease JoAnn Bergoffen, S. S. Scherer, S. Wang et al. · Science | 24 Dec 1993 | 1,079 |
| 20 | Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination Corinna Lappe-Siefke, Sandra Goebbels, Michel Gravel et al. · Nature Genetics | 18 Feb 2003 | 1,065 |
| 21 | Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve Jeremy Patrick Brockes, Kay L. Fields, MARTIN C. RAFF · Brain Research | Apr 1979 | 1,029 |
| 22 | The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein Laurie J. Ozelius, Jeffrey W. Hewett, Curtis E. Page et al. · Nature Genetics | Sep 1997 | 1,026 |
| 23 | Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders Hane Lee et al. · JAMA | 18 Oct 2014 | 1,007 |
| 24 | Population Incidence of Guillain-Barré Syndrome: A Systematic Review and Meta-Analysis James J. Sejvar, Andrew L. Baughman, Matt P. Wise et al. · Neuroepidemiology | 2011 | 965 |
| 25 | Electrophysiological classification of guillain‐barré syndrome: Clinical associations and outcome Robert D. M. Hadden, David R. Cornblath, Richard AC Hughes et al. · Annals of Neurology | Nov 1998 | 951 |
| 26 | Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome Jesse F. Abelson et al. · Science | 13 Oct 2005 | 949 |
| 27 | Interobserver agreement in the assessment of muscle strength and functional abilities in Guillain‐Barré syndrome R. P. Kleyweg, Frans G. A. van der Meché, Paul I.M. Schmitz · Muscle & Nerve | Nov 1991 | 929 |
| 28 | Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease Håvard Skre · Clinical Genetics | Aug 1974 | 914 |
| 29 | Axonal Swellings and Degeneration in Mice Lacking the Major Proteolipid of Myelin Ian R. Griffiths, Matthias Klugmann, Thomas James Anderson et al. · Science | 5 Jun 1998 | 905 |
| 30 | Diagnosis and management of Guillain–Barré syndrome in ten steps Sonja Emily Leonhard et al. · Nature Reviews Neurology | 20 Sep 2019 | 902 |
| 31 | A randomized trial of plasma exchange in acute central nervous system inflammatory demyelinating disease Brian G. Weinshenker, Peter C. O’Brien, Tanya M. Petterson et al. · Annals of Neurology | Dec 1999 | 896 |
| 32 | Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs Gabsang Lee, Eirini P. Papapetrou, Hyesoo Kim et al. · Nature | 19 Aug 2009 | 879 |
| 33 | Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell | Jun 1998 | 835 |
| 34 | Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia Gaia Skibinski, Nick Parkinson, Jeremy M. Brown et al. · Nature Genetics | 24 Jul 2005 | 832 |
| 35 | The spectrum of antecedent infections in Guillain-Barre syndrome Bart C. Jacobs, P H Rothbarth, Frans G. A. van der Meché et al. · Neurology | Oct 1998 | 829 |
| 36 | Clinical features, pathogenesis, and treatment of Guillain-Barré syndrome Pieter A. van Doorn, Liselotte Ruts, Bart C. Jacobs · The Lancet Neurology | 17 Sep 2008 | 828 |
| 37 | Bipolar affective disorders linked to DNA markers on chromosome 11 Janice A. Egeland, Daniela Se Gerhard, David L. Pauls et al. · Nature | Feb 1987 | 824 |
| 38 | DNA deletion associated with hereditary neuropathy with liability to pressure palsies Phillip F. Chance, M. Kathryn Alderson, Kathleen A. Leppig et al. · Cell | 1993 | 816 |
| 39 | Diagnosis of Guillain-Barre syndrome and validation of Brighton criteria Christiaan Fokke, B. van den Berg, Judith Drenthen et al. · Brain | 26 Oct 2013 | 801 |
| 40 | Krox-20 controls myelination in the peripheral nervous system Piotr Topilko, Sylvie Schneider‐Maunoury, Giovanni Levi et al. · Nature | Oct 1994 | 790 |
| 41 | SV2 Is the Protein Receptor for Botulinum Neurotoxin A Min Dong, Felix L. Yeh, William Howard Tepp et al. · Science | 16 Mar 2006 | 781 |
| 42 | Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bβ Chunjie Zhao, Junko Takita, Yosuke Tanaka et al. · Cell | Jun 2001 | 771 |
| 43 | Schwann Cells: Development and Role in Nerve Repair Kristján R. Jessen, Rhona Mirsky, Alison C. Lloyd · Cold Spring Harbor Perspectives in Biology | 8 May 2015 | 769 |
| 44 | Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy James R. Lupski et al. · New England Journal of Medicine | 10 Mar 2010 | 767 |
| 45 | Neurofilaments and Neurofilament Proteins in Health and Disease Aidong Yuan, Mala V. Rao, Veeranna et al. · Cold Spring Harbor Perspectives in Biology | Apr 2017 | 755 |
| 46 | Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells Sylvie M. de Waegh, Virginia M.-Y. Lee, Scott T. Brady · Cell | Feb 1992 | 751 |
| 47 | Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes Jérôme Feldmann, Anne‐Marie Prieur, Pierre Quartier et al. · The American Journal of Human Genetics | Jul 2002 | 747 |
| 48 | G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome Suzanne Lesage, Mathieu Anheim, Franck Letournel et al. · Annals of Neurology | 23 Mar 2013 | 740 |
| 49 | Peripheral neuropathies and anti-glycolipid antibodies H J Willison · Brain | 13 Nov 2002 | 715 |
| 50 | Serum anti‐GQ 1b IgG antibody is associated with ophthalmoplegia in Miller Fisher syndrome and Guillain‐Barre syndrome Atsuro Chiba, Susumu Kusunoki, Ryo Obata et al. · Neurology | Oct 1993 | 706 |
Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.