References
Sep 17, 1998·American Journal of Medical Genetics·F MartiniukP Plotz
Dec 18, 1998·American Journal of Medical Genetics·D R SumitaM Zatz
Jul 17, 1999·Neuromuscular Disorders : NMD·E M HoogerwaardM de Visser
Sep 14, 1999·European Journal of Human Genetics : EJHG·M G AusemsA T van der Ploeg
Aug 5, 2003·Pediatrics·Hannerieke M P van den HoutAns T van der Ploeg
Dec 26, 2003·Human Mutation·Monique M P HermansArnold J J Reuser
May 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN ACMG Work Group on Management of Pompe DiseaseMichael S Watson
May 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·R Rodney HowellAns van der Ploeg
May 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Rhona M JackDeeksha Bali
Jun 2, 2006·The Journal of Pediatrics·Priya S KishnaniUNKNOWN Infantile-Onset Pompe Disease Natural History Study Group
Jun 10, 2006·Journal of Inherited Metabolic Disease·Michael H GelbNestor A Chamoles
Aug 19, 2006·Human Mutation·A L E MontalvoM G Pittis
May 26, 2007·Brain : a Journal of Neurology·Carina Wallgren-PetterssonBjarne Udd
Nov 3, 2007·Pediatrics·Alex R KemperPriya S Kishnani
Aug 16, 2008·Clinical Chemistry·Angéla DajnokiOlaf A Bodamer
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Jul 10, 2009·Journal of Neurology·Sueli M Oba-ShinjoSuely K N Marie
Oct 7, 2009·Neurology·N B RomeroC Wallgren-Pettersson
Dec 2, 2009·Pediatrics·Yin-Hsiu ChienWuh-Liang Hwu
Dec 10, 2009·Nature Reviews. Genetics·Michael L Metzker
Jan 30, 2010·Bioinformatics·Aaron R Quinlan, Ira M Hall
Jul 21, 2010·Genome Research·Aaron McKennaMark A DePristo
Jan 12, 2011·Nature Biotechnology·James T RobinsonJill P Mesirov
Oct 1, 2011·Genome Biology·Anna-Maija SulonenJanna Saarela
Dec 3, 2011·Lancet·Thomas P MechtlerDavid C Kasper
Jan 19, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela SchüllerBenedikt Schoser
Jan 19, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Priya S KishnaniNancy J Mendelsohn
Jan 19, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Barbara K Burton
Jan 19, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marian KroosArnold J J Reuser
Feb 1, 2012·Journal of Inherited Metabolic Disease·Caroline RegneryBenedikt Schoser
Jun 6, 2012·Molecular Genetics and Metabolism·Lisa D Hobson-WebbPriya S Kishnani
Jun 26, 2012·Fly·Pablo CingolaniDouglas M Ruden
Jan 10, 2013·European Journal of Human Genetics : EJHG·Sandra MercierIsabelle Desguerre
Feb 28, 2013·European Journal of Human Genetics : EJHG·Mariacristina ScotoFrancesco Muntoni
Mar 8, 2013·The Journal of Pediatrics·C Ronald ScottFrantisek Turecek
Nov 16, 2013·Nucleic Acids Research·Melissa J LandrumDonna R Maglott
Nov 19, 2013·American Journal of Medical Genetics. Part a·Chia-Feng YangDau-Ming Niu
Feb 12, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Hsuan-Chieh LiaoYann-Jang Chen
Feb 18, 2014·Nature Biotechnology·Justin M ZookMarc Salit
Mar 7, 2014·Human Mutation·Renjie TanMingfu Zhu
Apr 4, 2014·Bioinformatics·Anthony M BolgerBjoern Usadel
Jul 20, 2014·Neurologic Clinics·Matthew P Wicklund, John T Kissel
Jul 22, 2014·Muscle & Nerve·Marc BartoliKrahn Martin
Aug 1, 2014·Pediatric Neurology·Shalea J PiteauJennifer J MacKenzie
Aug 12, 2014·BMC Genomics·Pubudu Saneth SamarakoonRobert Lyle
Oct 19, 2014·JAMA : the Journal of the American Medical Association·Hane LeeStanley F Nelson
Oct 31, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kyle RettererEden Haverfield
Nov 8, 2014·Annals of Neurology·Arunkanth AnkalaMadhuri R Hegde
Nov 21, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Mark B ConsugarEric A Pierce
Citations
Jun 18, 2016·Neuromuscular Disorders : NMD·Teresinha EvangelistaUNKNOWN VCP related diseases Consortium
Sep 15, 2016·Molecular Genetics and Metabolism Reports·Ryuichi MashimaTorayuki Okuyama
Dec 11, 2017·Practical Neurology·James B LillekerMark Roberts
Nov 19, 2017·Orphanet Journal of Rare Diseases·Katherine JohnsonVolker Straub
Sep 8, 2017·Orphanet Journal of Rare Diseases·Elizabeth HarrisVolker Straub
Feb 2, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Fanny ThuriotSébastien Lévesque
Mar 18, 2019·Journal of Clinical Pathology·Marija MeznaricLea Leonardis
Sep 12, 2019·Molecular Genetics & Genomic Medicine·Fernanda Sperb-LudwigIda Vanessa Doederlein Schwartz
Nov 12, 2019·Journal of Inherited Metabolic Disease·Aleena A KhanPriya S Kishnani
Dec 19, 2016·Frontiers in Molecular Biosciences·Wai Kwan Tang, Di Xia
Jan 15, 2020·Orphanet Journal of Rare Diseases·Jorge A BevilacquaRoberto Araujo
Apr 16, 2019·Genetics and Molecular Biology·Diana Rojas MálagaRoberto Giugliani
Apr 28, 2020·Neurology. Genetics·Fanny ThuriotSébastien Lévesque
Aug 23, 2020·Cells·Valentina La CognataSebastiano Cavallaro
May 10, 2018·Arquivos de neuro-psiquiatria·Paulo José LorenzoniRosana Herminia Scola
Sep 17, 2020·Life·Ozlem Goker-AlpanPriya S Kishnani
Jan 29, 2021·Frontiers in Neurology·Kristina MartensGerald Pfeffer
May 1, 2021·Diagnostics·Andrea BarpValeria Ada Sansone
May 21, 2021·Circulation Journal : Official Journal of the Japanese Circulation Society·Thuy Vy NguyenThuy Duong Ho Huynh
Jun 17, 2021·Muscle & Nerve·Stefan NicolauTeerin Liewluck
Nov 11, 2017·Molecular Genetics and Metabolism·Mari MoriPriya S Kishnani
Oct 24, 2021·Muscle & Nerve·Chiara GemelliMarina Grandis