Sandra Donkervoort

Sandra Donkervoort

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Sandra Donkervoort

Publications by authors named "Sandra Donkervoort"

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Adult -related myopathy carriers: Classification based on deep phenotyping.

Neurology 2019 Oct 20;93(16):e1535-e1542. Epub 2019 Sep 20.

From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.

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http://dx.doi.org/10.1212/WNL.0000000000008316DOI Listing
October 2019

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

Neurology 2019 Oct 25. Epub 2019 Oct 25.

From the Rehabilitation Medicine Department (M.S.J., M.W., R.V., R.L., C.N.), Clinical Research Center, Neuromuscular Symptoms Unit (K.M., I.C., M.L., M.P., J.E., F.T., J.W.), Tissue Injury Branch, National Institute of Nursing Research, Clinical Trials Unit (E.K., G.N.) and Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., M.L., E.H., G.M.A., A.K., A.S., K.Z., P.M., D.B.-G., A.R.F., C.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, and Pulmonary Branch (M.B., J.F., P.M.), National Heart, Lung, and Blood Institute, NIH, Bethesda, MD; Departments of Physical Therapy (L.N.) and Clinical Sciences (L.H.), University of Texas Southwestern, Dallas; Occupational Therapy and Physical Therapy Department (M. McGuire, J.C.C.), Cincinnati Children's Hospital Medical Center, OH; Pediatric Rehabilitation Medicine Department (T.D.), Children's National Medical Center, Washington, DC; Physical Therapy Department (K.K.), Rady's Children Hospital, San Diego, CA; Department of Physical Therapy (D.J.L.), University of Florida, Gainesville; Physical Therapy Department (A.G.), Children's Hospital of Philadelphia, PA; Paediatric Gait Analysis Laboratory of New South Wales (K.R.), The Children's Hospital at Westmead, Sydney, Australia; Dubowitz Neuromuscular Centre (M. Main), Great Ormond Street Hospital for Children, London, UK; Department of Physical Therapy (C.F.), Kennedy Krieger Institute, Baltimore, MD; G.H. Sergievsky Center and Department of Neurology (R.F., V.H.), Columbia University, New York, NY; Goryeb Children's Hospital (J.D.), Morristown, NJ; CureCMD (E.S.K., A.R.), Torrance, CA; and L'Escale Service Central de MPR pédiatrique (C.V.), Hospices Civils de Lyon, France

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http://dx.doi.org/10.1212/WNL.0000000000008517DOI Listing
October 2019

Efficacy of Antibiotic Agents after Spill of Bile and Gallstones during Laparoscopic Cholecystectomy.

Surg Infect (Larchmt) 2019 May/Jun;20(4):298-304. Epub 2019 Feb 22.

1 Department of Surgery, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1089/sur.2018.195DOI Listing
August 2019

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics 2019 Aug 30;20(3):129-143. Epub 2019 Apr 30.

Institute for Molecular Virology, Department of Molecular Microbiology and Immunology, Saint Louis University School of Medicine, E. A. Doisy Research Center, 6th Floor, St. Louis, MO, 63104, USA.

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http://link.springer.com/10.1007/s10048-019-00578-1
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http://dx.doi.org/10.1007/s10048-019-00578-1DOI Listing
August 2019

214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015.

Neuromuscul Disord 2019 Aug 13;29(8):644-650. Epub 2019 Jul 13.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.nmd.2019.07.002DOI Listing
August 2019

Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G.

Neurol Genet 2019 Apr 1;5(2):e315. Epub 2019 Mar 1.

University of Iowa (A.J.L.), Carver College of Medicine; Department of Pathology (K.A.J., M.O.C., S.A.M.), University of Iowa; Departments of Pediatrics and Neurology (R.J.B.), University of Utah; Department of Neurology (C.G.K.), University of California San Diego; Department of Neurology (C.G.), Gillette Children's Specialty Healthcare; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's; Department of Neurology (B.B.), Integris Southwest Medical Center; Departments of Pediatrics and Neurology (C.W.), Driscoll Children's Hospital; Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, University of Toronto; Departments of Pediatrics and Neurology (M.A.G., J.S.J.), University of Colorado; Department of Physical Medicine and Rehabilitation (A.B.), University of Colorado; Department of Neurosciences (R.T.L.), University of California San Diego; National Institutes of Health (S.D., C.G.B.), Institute of Neurological Disorders and Stroke; Department of Pathology (D.M.M.), University of California San Diego; Department of Human Genetics (R.B.W.), University of Utah; and Departments of Pediatrics and Neurology (K.D.M.), University of Iowa.

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http://dx.doi.org/10.1212/NXG.0000000000000315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454397PMC
April 2019

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

Muscle Nerve 2019 03 28;59(3):357-362. Epub 2018 Nov 28.

Division of Newborn Medicine, Division of Genetics and Genomics, and The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.

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http://doi.wiley.com/10.1002/mus.26378
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http://dx.doi.org/10.1002/mus.26378DOI Listing
March 2019

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Neurol Neuroimmunol Neuroinflamm 2019 01 12;6(1):e523. Epub 2018 Dec 12.

National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.

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http://dx.doi.org/10.1212/NXI.0000000000000523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292490PMC
January 2019

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.

J Neuromuscul Dis 2019 ;6(4):475-483

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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https://www.medra.org/servlet/aliasResolver?alias=iospress&a
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http://dx.doi.org/10.3233/JND-190414DOI Listing
January 2019

A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

Neuromuscul Disord 2018 09 27;28(9):778-786. Epub 2018 Jun 27.

Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6490182PMC
September 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child.

Muscle Nerve 2017 Dec 25;56(6):1177-1181. Epub 2017 Apr 25.

Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Building 50, Room 1146, Bethesda, Maryland, 20892, USA.

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http://dx.doi.org/10.1002/mus.25567DOI Listing
December 2017

Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.

Pediatr Neurol 2017 Oct 7;75:11-16. Epub 2017 Apr 7.

Department of Neurology, Medical School of the University of São Paulo (FMUSP), São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.04.002DOI Listing
October 2017

Short- and Long-Term Outcomes after a Reconstituting and Fenestrating Subtotal Cholecystectomy.

J Am Coll Surg 2017 Sep 10;225(3):371-379. Epub 2017 Jun 10.

Department of Surgery, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jamcollsurg.2017.05.016DOI Listing
September 2017

HSP and deafness: Neurocristopathy caused by a novel mosaic mutation.

Neurol Genet 2017 Jun 15;3(3):e151. Epub 2017 May 15.

Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., D.B.-G., P.Y., Y.H., P.M., D.E., A.R.F., C.G.B.), and National Eye Institute (W.M.Z.), National Institutes of Health, Bethesda, MD; Children's National Medical Center (D.B.-G.), Washington, DC; Department of Neurology (A.H.), The Johns Hopkins University School of Medicine, Baltimore, MD; Children's Mercy Hospital (A.M.A., A.C.M.), Kansas City, MO; and Department of Neurology (M.D.), University of Kansas Medical Center, Kansas City, KS.

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http://dx.doi.org/10.1212/NXG.0000000000000151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432370PMC
June 2017

The Role of PIEZO2 in Human Mechanosensation.

N Engl J Med 2016 10 21;375(14):1355-1364. Epub 2016 Sep 21.

From the National Center for Complementary and Integrative Health (A.T.C., M.S., M.C., C.L.), the National Institute of Neurological Disorders and Stroke (D.B.-G., S.D., L.H.H., N.B., D.N., A.R.F., C.E.L.P., C.G.B.), and the Functional and Applied Biomechanics Section, Rehabilitation Medicine Department, Clinical Center (K.A., C.Z., C.S.), National Institutes of Health, Bethesda, MD; the Division of Neurology, Children's National Health System, Washington, DC (D.B.-G.); the Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and the Department of Clinical Neurosciences and Department of Pediatrics, Alberta Children's Hospital Research Institute (J.K.M.), University of Calgary, Calgary, Canada; and the Departments of Neurosciences and Pediatrics, School of Medicine, University of California, San Diego, Rady Children's Hospital, San Diego, CA (C.M.G.).

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http://dx.doi.org/10.1056/NEJMoa1602812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911918PMC
October 2016

Next-generation sequencing still needs our generation's clinicians.

Neurol Genet 2015 Aug 13;1(2):e13. Epub 2015 Aug 13.

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807906PMC
August 2015

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

Neurology 2015 Apr 13;84(14):1495-7. Epub 2015 Mar 13.

From the National Institutes of Health (D.X.B.-G., S.D., E.A.W., C.G.B.), Bethesda, MD; Children's National Medical Center (D.X.B.-G.), Washington, DC; CS Mott Children's Hospital (E.N.), University of Michigan, Ann Arbor; Columbia University Medical Center (J.D.), New York, NY; Prevention Genetics (T.L.W.), Marshfield, WI; University of Iowa (S.A.M.), Iowa City; and University of Texas Southwestern Medical Center Dallas (S.T.I.), Dallas, TX. Dr. Winder is currently with Invitae Corp., San Francisco, CA.

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http://dx.doi.org/10.1212/WNL.0000000000001440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395885PMC
April 2015

English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseases.

Arch Phys Med Rehabil 2014 Nov 24;95(11):2064-2070.e1. Epub 2014 May 24.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD. Electronic address:

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http://dx.doi.org/10.1016/j.apmr.2014.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210187PMC
November 2014

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

J Neuropathol Exp Neurol 2014 May;73(5):425-41

From the National Institute of Nursing Research, Bethesda, Maryland (KGM); National Institute of Neurological Disorders and Stroke, Bethesda, Maryland (KZ, JD, YH, SD, CGB); Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (LM, LBR-A); Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama (PF); Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware (NP-H, MS); Prevention Genetics, Marshfield, Wisconsin (TLW); Pediatric Neurology Department, National Neuroscience Institute (AA), and Division of Medical Genetics, Department of Pediatrics, The Children's Hospital (AWE), King Fahad Medical City; and College of Medicine, King Saud bin Abdulaziz University for Health Sciences (AA,AWE), Riyadh, Kingdom of Saudi Arabia; Department of Pathology, Brigham and Women's Hospital (JAG); and Harvard Medical School (JAG), Boston, Massachusetts; Department of Pathology, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania (RE); Nemours Children's Hospital, Orlando, Florida (RF); and Medical Examiner's Office, Mount Holly, New Jersey (ICH).

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http://dx.doi.org/10.1097/NEN.0000000000000065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113964PMC
May 2014

Enterocolic lymphocytic phlebitis: an oncologic surgical resection without a preoperative pathologic diagnosis.

J Surg Case Rep 2014 May 15;2014(5). Epub 2014 May 15.

Department of Computed Tomography, OLVG, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/jscr/rju037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021381PMC
May 2014

Surgeon's volume is not associated with complication outcome after laparoscopic cholecystectomy.

Dig Dis Sci 2014 Jan 1;59(1):39-45. Epub 2013 Oct 1.

Department of Surgery, Onze Lieve Vrouwe Gasthuis (OLVG), Postbus 95500, 1090 HM, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10620-013-2885-5DOI Listing
January 2014

'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.

Neuromuscul Disord 2013 Dec 11;23(12):955-61. Epub 2013 Aug 11.

National Institutes of Health, National Institute of Neurological Disorders and Stroke, Neurogenetics Branch, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.nmd.2013.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5030769PMC
December 2013

Anastomotic stenosis after pancreaticoduodenectomy: an endoscopic solution.

Gastrointest Endosc 2012 Nov 26;76(5):1067-8. Epub 2012 Jan 26.

Department of Surgery, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.gie.2011.11.022DOI Listing
November 2012

Outcome of laparoscopic cholecystectomy conversion: is the surgeon's selection needed?

Surg Endosc 2012 Aug 8;26(8):2360-6. Epub 2012 Mar 8.

Department of Surgery, Onze Lieve Vrouwe Gasthuis (OLVG), 95500, 1090 Amsterdam, HM, The Netherlands.

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http://dx.doi.org/10.1007/s00464-012-2189-4DOI Listing
August 2012

Radiological features of Paget disease of bone associated with VCP myopathy.

Skeletal Radiol 2012 Mar 4;41(3):329-37. Epub 2011 Jun 4.

Department of Radiology, VA Long Beach Health Care, University of California, Irvine, CA, USA.

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http://dx.doi.org/10.1007/s00256-011-1193-4DOI Listing
March 2012

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.

Arch Neurol 2011 Nov;68(11):1440-6

Division of Neuromuscular Medicine, Ken and Ruth Davee Department of Neurology and Clinical Neurological Sciences, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneurol.2011.250DOI Listing
November 2011

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

J Lipid Res 2010 Apr 7;51(4):819-23. Epub 2009 Oct 7.

Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tubingen, Tubingen, Germany.

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http://dx.doi.org/10.1194/jlr.M002543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842155PMC
April 2010

Single and combined diagnostic value of clinical features and laboratory tests in acute appendicitis.

Acad Emerg Med 2009 Sep 18;16(9):835-42. Epub 2009 Aug 18.

Department of Surgery, Academic Medical Center, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1553-2712.2009.00486.xDOI Listing
September 2009

The emerging role of genetics professionals in forensic kinship DNA identification after a mass fatality: lessons learned from Hurricane Katrina volunteers.

Genet Med 2009 Jun;11(6):414-7

Department of Obstetrics and Gynecology and Women's Health, Division of Reproductive Genetics, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181a16cccDOI Listing
June 2009

Enhancing accurate data collection in mass fatality kinship identifications: lessons learned from Hurricane Katrina.

Forensic Sci Int Genet 2008 Sep 11;2(4):354-62. Epub 2008 Jul 11.

Joan H. Marks Graduate Program in Human Genetics, Sarah Lawrence College, Bronxville, NY, USA.

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http://dx.doi.org/10.1016/j.fsigen.2008.05.008DOI Listing
September 2008

A case of chylous fistula after axillary dissection in breast-conserving treatment for breast cancer.

Clin Breast Cancer 2006 Jun;7(2):171-2

Department of Surgery, Onze Lieve Vrouwe Gasthuis, Amsterdam, The Netherlands.

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http://dx.doi.org/10.3816/CBC.2006.n.030DOI Listing
June 2006