Most cited papers in Glycogen Storage Diseases and Myoclonus
What are the most cited papers in Glycogen Storage Diseases and Myoclonus?
The most cited paper in Glycogen Storage Diseases and Myoclonus is "Genomic Aberrations and Survival in Chronic Lymphocytic Leukemia" (Hartmut Döhner, Stephan Stilgenbauer, Axel Benner et al., 2000), with 3,318 citations. Next come "Creatine and Creatinine Metabolism" (2,964) and "Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease" (2,179).
Showing 50 of 100 papers. Every paper with more than 478 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Genomic Aberrations and Survival in Chronic Lymphocytic Leukemia Hartmut Döhner, Stephan Stilgenbauer, Axel Benner et al. · New England Journal of Medicine | 28 Dec 2000 | 3,318 |
| 2 | Creatine and Creatinine Metabolism Markus Wyss, Rima F Kaddurah-Daouk · Physiological Reviews | Jul 2000 | 2,964 |
| 3 | Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease E. Sidransky et al. · New England Journal of Medicine | 21 Oct 2009 | 2,179 |
| 4 | Consensus Statement of the Movement Disorder Society on Tremor Günther Deuschl, Peter G. Bain, Mitchell F. Brin · Movement Disorders | 20 Oct 2008 | 1,995 |
| 5 | Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society Kailash P. Bhatia, Peter G. Bain, Nin P.S. Bajaj et al. · Movement Disorders | 30 Nov 2017 | 1,591 |
| 6 | Chronic parkinsonism secondary to intravenous injection of meperidine analogues Glenn Craig Davis, Adrian C. Williams, Sanford P. Markey et al. · Psychiatry Research | Dec 1979 | 1,375 |
| 7 | Combined (Thalamotomy and Stimulation) Stereotactic Surgery of the VIM Thalamic Nucleus for Bilateral Parkinson Disease A.L. Benabid, Pierre Pollak, Antoine Louveau et al. · Stereotactic and Functional Neurosurgery | 1987 | 1,374 |
| 8 | Lithium inhibits glycogen synthase kinase-3 activity and mimics Wingless signalling in intact cells Vuk Stambolic, Laurent Ruel, James Robert Woodgett · Current Biology | Dec 1996 | 1,333 |
| 9 | THE DETERMINATION OF GLYCOGEN IN LIVER AND MUSCLE BY USE OF ANTHRONE REAGENT Nicholas V. Carroll, R. W. Longley, Joseph H. Roe · Journal of Biological Chemistry | Jun 1956 | 1,319 |
| 10 | Enzyme Replacement Therapy in Fabry Disease Raphael Schiffmann, Jeffrey B. Kopp, Howard A. Austin et al. · JAMA | 6 Jun 2001 | 1,312 |
| 11 | Metformin suppresses gluconeogenesis by inhibiting mitochondrial glycerophosphate dehydrogenase Anila K. Madiraju, Derek M. Erion, Yasmeen Rahimi et al. · Nature | 21 May 2014 | 1,311 |
| 12 | Niemann-Pick disease type C Marie Therese Vanier · Orphanet Journal of Rare Diseases | 3 Jun 2010 | 1,242 |
| 13 | A rapid filter paper assay for UDPglucose-glycogen glucosyltransferase, including an improved biosynthesis of UDP-14C-glucose James A. Thomas, Keith K. Schlender, Joseph Larner · Analytical Biochemistry | 1968 | 1,207 |
| 14 | Enzymatic Defect in Fabry's Disease Roscoe O. Brady, Andrew E. Gal, Roy M. Bradley et al. · New England Journal of Medicine | 25 May 1967 | 1,066 |
| 15 | High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening* Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics | 7 Jun 2006 | 1,012 |
| 16 | Subthalamic nucleus deep brain stimulation: Summary and meta-analysis of outcomes Galit Kleiner‐Fisman, Jan Herzog, David N. Fisman et al. · Movement Disorders | 2006 | 964 |
| 17 | Botulinum Toxin Injection into Extraocular Muscles as an Alternative to Strabismus Surgery Alan B. Scott · Ophthalmology | Oct 1980 | 951 |
| 18 | How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor Elan D. Louis, Joaquim José Ferreira · Movement Disorders | 19 Feb 2010 | 918 |
| 19 | Selective small molecule inhibitors of glycogen synthase kinase-3 modulate glycogen metabolism and gene transcription Matthew P. Coghlan, Ainsley A. Culbert, Darren A.E. Cross et al. · Chemistry & Biology | Oct 2000 | 901 |
| 20 | Paraneoplastic syndromes of the CNS Josep O. Dalmau, Myrna R. Rosenfeld · The Lancet Neurology | 12 Mar 2008 | 877 |
| 21 | The Role and Regulation of Energy Reserve Polymers in Micro-organisms EDWIN A. DAWES, Peter J. Senior · Advances in microbial physiology/Advances in Microbial Physiology | 1973 | 866 |
| 22 | Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey Atul B Mehta, Renato Pietro Ricci, Urs Widmer et al. · European Journal of Clinical Investigation | Mar 2004 | 860 |
| 23 | Fabry's disease Yuri A. Zárate, Robert James Hopkin · The Lancet | Oct 2008 | 804 |
| 24 | Recombinant human acid α-glucosidase Priya Sunil Kishnani et al. · Neurology | 6 Dec 2006 | 781 |
| 25 | Glycogen Synthase Kinase‐3 from Rabbit Skeletal Muscle Noor EMBI, Dennis B. RYLATT, Philip Cohen · European Journal of Biochemistry | Jun 1980 | 778 |
| 26 | Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy Robert J. Desnick, Roscoe Brady, John Barranger et al. · Annals of Internal Medicine | 18 Feb 2003 | 772 |
| 27 | Increased rate of gluconeogenesis in type II diabetes mellitus. A 13C nuclear magnetic resonance study. I Magnusson, Douglas L. Rothman, Lee D. Katz et al. · Journal of Clinical Investigation | Oct 1992 | 768 |
| 28 | An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy Shoichiro Nakao, Toshihiro Takenaka, Masato Maeda et al. · New England Journal of Medicine | 3 Aug 1995 | 767 |
| 29 | Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group Eric H. Kossoff et al. · Epilepsia Open | 25 Apr 2018 | 765 |
| 30 | A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease Ans T. van der Ploeg et al. · New England Journal of Medicine | 14 Apr 2010 | 759 |
| 31 | Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease Deborah J. Smyth, Vincent Plagnol, Neil M Walker et al. · New England Journal of Medicine | 10 Dec 2008 | 759 |
| 32 | Updated Diagnostic Criteria for Paraneoplastic Neurologic Syndromes Francesc Graus, Alberto Vogrig, Sergio Muñiz‐Castrillo et al. · Neurology Neuroimmunology & Neuroinflammation | 18 May 2021 | 750 |
| 33 | Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis Timothy Martin Cox, Robin Lachmann, C.E.M. Hollak et al. · The Lancet | Apr 2000 | 750 |
| 34 | A comparison of three methods of glycogen measurement in tissues Janet V. Passonneau, Vivian R. Lauderdale · Analytical Biochemistry | Aug 1974 | 745 |
| 35 | Glycogen and its metabolism: some new developments and old themes Peter J. Roach, Anna A DePaoli-Roach, Thomas D. Hurley et al. · Biochemical Journal | 16 Jan 2012 | 726 |
| 36 | Perifollicular Xanthomatosis as the Hallmark of Axillary Fox-Fordyce Disease Adolfo B. Bormate, Philip E. LeBoit, Timothy H. McCalmont · Archives of Dermatology | Aug 2008 | 725 |
| 37 | Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease Maria Luisa Escolar, Michele D. Poe, James M. Provenzale et al. · New England Journal of Medicine | 18 May 2005 | 715 |
| 38 | Accurate differentiation of parkinsonism and essential tremor using visual assessment of [123I]-FP-CIT SPECT imaging: The [123I]-FP-CIT study group Hani T. S. Benamer et al. · Movement Disorders | May 2000 | 708 |
| 39 | Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males K D MacDermot, A Holmes, A H Miners · Journal of Medical Genetics | Nov 2001 | 683 |
| 40 | Impaired Glucose Transport as a Cause of Decreased Insulin-Stimulated Muscle Glycogen Synthesis in Type 2 Diabetes Gary W. Cline, Kitt Falk Petersen, Martin Krššák et al. · New England Journal of Medicine | 22 Jul 1999 | 682 |
| 41 | Enzyme-Replacement Therapy in Mucopolysaccharidosis I Emil Kakkis, Joseph Muenzer, George E. Tiller et al. · New England Journal of Medicine | 18 Jan 2001 | 676 |
| 42 | Ataxia telangiectasia: a review Cynthia Rothblum‐Oviatt, Jennifer Wright, Maureen A. Lefton‐Greif et al. · Orphanet Journal of Rare Diseases | 24 Nov 2016 | 668 |
| 43 | The Calcium Messenger System Franklin H. Epstein, Franklin H. Epstein, Howard Rasmussen · New England Journal of Medicine | 24 Apr 1986 | 665 |
| 44 | Fabry disease revisited: Management and treatment recommendations for adult patients Alberto Arduan Ortiz, Dominique Paul Germain, Robert J. Desnick et al. · Molecular Genetics and Metabolism | 28 Feb 2018 | 661 |
| 45 | Pompe disease diagnosis and management guideline Priya Sunil Kishnani et al. · Genetics in Medicine | May 2006 | 643 |
| 46 | Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease Vicente E. Torres, Arlene B. Chapman, Olivier Devuyst et al. · New England Journal of Medicine | 4 Nov 2017 | 640 |
| 47 | Fatal Familial Insomnia and Dysautonomia with Selective Degeneration of Thalamic Nuclei Elio Lugaresi, Rossella Medori, Pasquale Montagna et al. · New England Journal of Medicine | 16 Oct 1986 | 639 |
| 48 | Structure of the O-Glycosidically Linked Carbohydrate Units of Fetuin Robert G. Spiro, V D Bhoyroo · Journal of Biological Chemistry | Sep 1974 | 634 |
| 49 | Consensus guidelines for the diagnosis and treatment of adults with GH deficiency II: a statement of the GH Research Society in association with the European Society for Pediatric Endocrinology, Lawson Wilkins Society, European Society of Endocrinology, Japan Endocrine Society, and Endocrine Society of Australia Ken K. Y. Ho, _ _ · European Journal of Endocrinology | Dec 2007 | 620 |
| 50 | Renal Gluconeogenesis John E. Gerich, Christian Meyer, Hans Juergen Woerle et al. · Diabetes Care | Feb 2001 | 612 |
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.