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51

S.P.21 Clinical outcome measures in Collagen 6 (COL6) and Laminin α2(LAMA2) related congenital muscular dystrophy

Meilleur, K.G., Jain, M., Kim, E., Hynan, L., Shieh, C.Y., Waite, M., Duong, T., Glanzman, A., Main, M., Rose, K., McGuire, M., Bendixen, R., Foley, R., Donkervoort, S., Schindler, A., Kokkinis, A., H

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 50 KB

english, 2012

52

Early Laparoscopic Cholecystectomy Improves Outcomes After Endoscopic Sphincterotomy for Choledochocystolithiasis

Jan Siert K. Reinders, Annemarie Goud, Robin Timmer, Philip M. Kruyt, Ben J.M. Witteman, Niels Smakman, Ronald Breumelhof, Sandra C. Donkervoort, Jeroen M. Jansen, Joos Heisterkamp, Marina Grubben, Be

Journal:

Gastroenterology

Year:

2010

Language:

english

File:

PDF, 242 KB

english, 2010

53

Surgeon’s Volume Is Not Associated with Complication Outcome After Laparoscopic Cholecystectomy

Donkervoort, Sandra C., Dijksman, Lea M., Versluis, Pieter G., Clous, Emile A., Vahl, Anco C.

Journal:

Digestive Diseases and Sciences

Year:

2014

Language:

english

File:

PDF, 282 KB

english, 2014

54

P.1.14 Knee extensor muscle force correlates with and may predict sit to stand ability in congenital muscular dystrophy

Jain, M., Hall, D., Waite, M., Collins, J., Meilleur, K., Rutkowski, A., Dastgir, J., Donkervoort, S., Leach, M., Bonnemann, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 62 KB

english, 2013

55

P.1.3 Postural changes in forced vital capacity characterize congenital muscular dystrophy subtypes

Meilleur, K.G., Linton, M.M., Rutkowski, A., Leach, M.E., Jain, M., Jolley, C., Barton, M., McGraw, P., Collins, J., Donkervoort, S., Dastgir, J., Fontana, J.R., Sawnani, H., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

56

P.10.11 Validity of the 2min walk test as an outcome measure in individuals with CMD and other neuromuscular diseases

Jain, M., Logaraj, R., Waite, M., Shieh, C.Y., Dastgir, J., Donkervoort, S., Leach, M., Bonnemann, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

57

‘Double trouble’: Diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia

Donkervoort, Sandra, Schindler, Alice, Tesi-Rocha, Carolina, Schreiber, Allison, Leach, Meganne E., Dastgir, Jahannaz, Hu, Ying, Mankodi, Ami, Wagner, Kathryn R., Friedman, Neil R., Bönnemann, Carsten

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.57 MB

english, 2013

58

P.13.9 Acoustic radiation force impulse imaging for the differentiation of muscle tissue stiffness in neuromuscular disorders

Dastgir, J., Vuillerot, C., Harrison, K., Poon, A., Donkervoort, S., Leach, M., Jain, M., Meilleur, K., Rutkowski, A., Mankodi, A., Bonnemann, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

59

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

Esmailpour, T., Riazifar, H., Liu, L., Donkervoort, S., Huang, V. H., Madaan, S., Shoucri, B. M., Busch, A., Wu, J., Towbin, A., Chadwick, R. B., Sequeira, A., Vawter, M. P., Sun, G., Johnston, J. J.,

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 10.00 MB

english, 2014

60

Prevalence of apraxia among patients with a first left hemisphere stroke in rehabilitation centres and nursing homes

Donkervoort, M., Dekker, J., Ende, E.v.d., Stehmann-Saris, J., Deelman, B.

Journal:

Clinical Rehabilitation

Year:

2000

Language:

english

File:

PDF, 140 KB

english, 2000

61

Développement et validation de la version anglaise du NM-Score : une classification fonctionnelle pour les patients atteints de maladies neuromusculaires

Vuillerot, C., Meilleur, K.-G., Jain, M., Waite, M., Wu, T., Dastgir, J., Donkervoort, S., Leach, M., Rippert, P., Payan, C., Iwaz, J., Hamroun, D., Berard, C., Poirot, I., Bonnemann, C.

Journal:

Annals of Physical and Rehabilitation Medicine

Year:

2014

Language:

french

File:

PDF, 436 KB

french, 2014

62

English Cross-Cultural Translation and Validation of the Neuromuscular Score: A System for Motor Function Classification in Patients With Neuromuscular Diseases

Vuillerot, Carole, Meilleur, Katherine G., Jain, Minal, Waite, Melissa, Wu, Tianxia, Linton, Melody, Datsgir, Jahannaz, Donkervoort, Sandra, Leach, Meganne E., Rutkowski, Anne, Rippert, Pascal, Payan,

Journal:

Archives of Physical Medicine and Rehabilitation

Year:

2014

Language:

english

File:

PDF, 164 KB

english, 2014

63

English cross-cultural translation and validation of the NM-Score: A system for motor function classification in patients with neuromuscular diseases

Vuillerot, C., Meilleur, K.G., Jain, M., Waite, M., Wu, T., Dastgir, J., Donkervoort, S., Leach, M., Rippert, P., Payan, C., Iwaz, J., Hamroun, D., Berard, C., Poirot, I., Bonnemann, C.

Journal:

Annals of Physical and Rehabilitation Medicine

Year:

2014

Language:

english

File:

PDF, 215 KB

english, 2014

64

Functional activities of the upper extremity of young adults with cerebral palsy: A limiting factor for participation?

van Meeteren, J., Roebroeck, M. E., Celen, E., Donkervoort, M., Stam, H. J., Transition Research Group South Wes,

Journal:

Disability & Rehabilitation

Year:

2008

Language:

english

File:

PDF, 324 KB

english, 2008

65

Unmet needs and health care utilization in young adults with cerebral palsy

Nieuwenhuijsen, Channah, van der Laar, Yvette, Donkervoort, Mireille, Nieuwstraten, Wilbert, Roebroeck, Marij E., Stam, Henk J.

Journal:

Disability & Rehabilitation

Year:

2008

Language:

english

File:

PDF, 596 KB

english, 2008

66

Novel Aryltitanium(IV) Complexes Containing η 3 -NCN-Pseudofacial- and η 3 -NCN-Meridional-Bonded [C 6 H 3 (CH 2 NMe 2 ) 2 -2,6] - (Abbreviated as NCN) Ligands. The Crystal Structures of [TiCl 2 (η 3 - fac -NCN)(O- i -Pr)], [TiCl(η 3 -

Donkervoort, Johannes G., Jastrzebski, Johann T. B. H., Deelman, Berth-Jan, Kooijman, Huub, Veldman, Nora, Spek, Anthony L., van Koten, Gerard

Journal:

Organometallics

Year:

1997

Language:

english

File:

PDF, 376 KB

english, 1997

67

G.P.312

Bharucha-Goebel, D.X., Neil, E., Donkervoort, S., Moore, S., Winder, T., Dastgir, J., Iannaccone, S., Bönnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 48 KB

english, 2014

68

G.P.272

Donkervoort, S., Neu, M., Kirschner, J., Yang, M.L., Marston, S.B., Gibbons, M.A., Hu, Y., de Winter, J.M., Ottenheijm, C.A.C., Rutkowski, A., Krüger, M., McNamara, E., Ong, R., Nowak, K., Clarke, N.F

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 61 KB

english, 2014

69

T.P.48

Dastgir, J., Vuillerot, C., Nguyen, D., Yang, K., Auh, S., Donkervoort, S., Meilleur, K., Leach, M., Jain, M., Rutkowski, A., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

70

G.P.152

Leach, M.E., Donkervoort, S., Simpson, K., Tesi-Rocha, A.C., Avery, R., Dastgir, J., Reyes, C., Hu, Y., Winder, T.L., Bönnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

71

Transfer of training effects in stroke patients with apraxia: An exploratory study

Geusgens, Chantal, van Heugten, Caroline, Donkervoort, Mireille, van den Ende, Els, Jolles, Jelle, van den Heuvel, Wim

Journal:

Neuropsychological Rehabilitation

Year:

2006

Language:

english

File:

PDF, 220 KB

english, 2006

72

Frequency of Prader–Willi syndrome in births conceived via assisted reproductive technology

Gold, June-Anne, Ruth, Chelsey, Osann, Kathryn, Flodman, Pamela, McManus, Barbara, Lee, Hye-Seung, Donkervoort, Sandra, Khare, Manaswitha, Roof, Elizabeth, Dykens, Elizabeth, Driscoll, Daniel J., Butl

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 315 KB

english, 2014

73

Determinants of functioning of adolescents and young adults with cerebral palsy

Donkervoort, Mireille, Roebroeck, Marij, Wiegerink, Diana, van der Heijden-Maessen, Helene, Stam, Henk, The Transition Research Group South,

Journal:

Disability & Rehabilitation

Year:

2007

Language:

english

File:

PDF, 528 KB

english, 2007

74

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Donkervoort, S., Dastgir, J., Hu, Y., Zein, W.M., Marks, H., Blackstone, C., Bönnemann, C.G.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 618 KB

english, 2014

75

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

Mehta, SG, Khare, M, Ramani, R, Watts, GDJ, Simon, M, Osann, KE, Donkervoort, S, Dec, E, Nalbandian, A, Platt, J, Pasquali, M, Wang, A, Mozaffar, T, Smith, CD, Kimonis, VE

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 579 KB

english, 2013

76

Position of Glycine Substitutions in the Triple Helix of COL6A1 , COL6A2 , and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

Butterfield, Russell J., Foley, A. Reghan, Dastgir, Jahannaz, Asman, Stephanie, Dunn, Diane M., Zou, Yaqun, Hu, Ying, Donkervoort, Sandra, Flanigan, Kevin M., Swoboda, Kathryn J., Winder, Thomas L., W

Journal:

Year:

2013

Language:

english

File:

PDF, 708 KB

english, 2013

77

Efficacy of strategy training in left hemisphere stroke patients with apraxia: A randomised clinical trial

Donkervoort, Mireille, Dekker, Joost, Stehmann-Saris, Fieneke C., Deelman, Betto G.

Journal:

Neuropsychological Rehabilitation

Year:

2001

Language:

english

File:

PDF, 237 KB

english, 2001

78

Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused by LARGE Mutations

Meilleur, Katherine G., Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L., Alsaman, Abdulaziz, El-Hattab, Ayman W., Dastgir, Jahannaz, Hu, Ying, Donkervoort,

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2014

Language:

english

File:

PDF, 12.54 MB

english, 2014

79

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

Surampalli, Abhilasha, Khare, Manaswitha, Kubrussi, Georgette, Wencel, Marie, Tanaja, Jasmin, Donkervoort, Sandra, Osann, Kathryn, Simon, Mariella, Wallace, Douglas, Smith, Charles, M.McInerney-Leo, A

Journal:

Journal of Genetic Counseling

Year:

2015

Language:

english

File:

PDF, 258 KB

english, 2015

80

New method for faecal fat determination by mid-infrared spectroscopy, using a transmission cell: an improvement in standardization

Jakobs, B S, Volmer, M, Swinkels, D W, Hofs, M T W, Donkervoort, S, Joosting, M M J, Wolthers, B G, de Peinder, P, Voorbij, H A M

Journal:

Annals of Clinical Biochemistry

Year:

2000

Language:

english

File:

PDF, 182 KB

english, 2000

81

Sensitivity of different ADL measures to apraxia and motor impairments

Donkervoort, M, Dekker, J, Deelman, BG

Journal:

Clinical Rehabilitation

Year:

2002

Language:

english

File:

PDF, 112 KB

english, 2002

82

The course of apraxia and ADL functioning in left hemisphere stroke patients treated in rehabilitation centres and nursing homes

Donkervoort, M., Dekker, J., Deelman, B.

Journal:

Clinical Rehabilitation

Year:

2006

Language:

english

File:

PDF, 157 KB

english, 2006

83

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

Dolan, Siobhan M, Saraiya, Devki S, Donkervoort, Sandra, Rogel, Kelly, Lieber, Caroline, Sozer, Amanda

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 136 KB

english, 2009

84

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Donkervoort, S., Papadaki, M., de Winter, J.M., Neu, M.B., Kirschner, J., Bolduc, V., Yang, M.L., Gibbons, M.A., Hu, Y., Dastgir, J., Leach, M.E., Rutkowski, A., Foley, A.R., Krüger, M., Wartchow, E.P

Journal:

Annals of Neurology

Year:

2015

File:

PDF, 1.55 MB

2015

85

Volvulus of Gastric Tube Reconstruction after Transhiatal Esophagectomy: An Endoscopic Solution

S. Donkervoort, B. Van Ramshorst, R. Timmer

Year:

2004

Language:

english

File:

PDF, 74 KB

english, 2004

86

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Donkervoort, S., Papadaki, M., de Winter, J.M., Neu, M.B., Kirschner, J., Bolduc, V., Yang, M.L., Gibbons, M.A., Hu, Y., Dastgir, J., Leach, M.E., Rutkowski, A., Foley, A.R., Krüger, M., Wartchow, E.P

Journal:

Annals of Neurology

Year:

2015

Language:

english

File:

PDF, 1.55 MB

english, 2015

87

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

Schule, R., Siddique, T., Deng, H.-X., Yang, Y., Donkervoort, S., Hansson, M., Madrid, R. E., Siddique, N., Schols, L., Bjorkhem, I.

Journal:

The Journal of Lipid Research

Year:

2010

Language:

english

File:

PDF, 575 KB

english, 2010

88

Electrical impedance myography as a potential biomarker in individuals with COL6-related dystrophy

Nichols, C., Lehky, T., Waite, M., Duong, T., Nelson, L., Keller, K., Lott, D., Meilleur, K., Collins, J., Dastgir, J., Vuillerot, C., Rutkowski, A., Donkervoort, S., Leach, M., Jain, M., Bönnemann, C

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

89

Cytoplasmic body pathology in severe ACTA1-myopathy in the absence of typical nemaline-rod histology

Donkervoort, S., Chan, S., Bradley, N., Foley, A., Nguyen, D., Hu, Y., Leach, M., Thangarajh, M., Reyes, C., Nance, J., Moore, S., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 226 KB

english, 2015

90

Molecular basis of stiff patient syndrome caused by mutations in ACTA1 and TPM3

Papadaki, M., Marston, S., Memo, M., Messer, A., Donkervoort, S., Bönnemann, C., Nowak, K., Ong, R., McNamara, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

91

Giant axonal neuropathy – clinical trial preparedness and evaluation of markers of disease severity

Bharucha-Goebel, D., Ezzo, D., Jain, M., Waite, M., Nichols, C., Lehky, T., Mohassel, P., Donkervoort, S., Leach, M., Dastgir, J., Marra, J., Zein, W., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

92

Cardiomyopathy in patients with ACTA1-myopathy

Donkervoort, S., Yang, M., Leach, M., Medne, L., Yum, S., Hotchkiss, L., Rutkowski, A., Chatfield, K., Auerbach, S., Miyamoto, S., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

93

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

Huiberts, A. A. M., Donkervoort, S. C., Blok, W. L., Blaauwgeers, H. L. G.

Journal:

Journal of Surgical Case Reports

Year:

2014

Language:

english

File:

PDF, 1.63 MB

english, 2014

94

Next-generation sequencing still needs our generation's clinicians

Foley, A. R., Donkervoort, S., Bonnemann, C. G.

Journal:

Neurology: Genetics

Year:

2015

Language:

english

File:

PDF, 270 KB

english, 2015

95

The neuromuscular differential diagnosis of joint hypermobility; S. Donkervoort, C. G. Bönnemann, B. Loeys, H. Jungbluth, and N. C. Voermans; Am J Med Genet C Semin Med Genet. 2015 Mar;169(1):23-42

Donkervoort, S., Bönnemann, C. G., Loeys, B., Jungbluth, H., Voermans, N. C.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 58 KB

english, 2016

96

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

Hotchkiss, L., Donkervoort, S., Leach, M. E., Mohassel, P., Bharucha-Goebel, D. X., Bradley, N., Nguyen, D., Hu, Y., Gurgel-Giannetti, J., Bo nnemann, C. G.

Journal:

Journal of Child Neurology

Year:

2016

Language:

english

File:

PDF, 484 KB

english, 2016

97

Anticipation of complications after laparoscopic cholecystectomy: prediction of individual outcome

Donkervoort, S. C., Kortram, K., Dijksman, L. M., Boermeester, M. A., van Ramshorst, B., Boerma, D.

Journal:

Surgical Endoscopy

Year:

2016

Language:

english

File:

PDF, 456 KB

english, 2016

98

Molecular Mechanism of Novel Deletions in TPM3 that cause a Hypercontractile Phenotype with Congenital Muscle Stiffness

Marston, Steven, Papadaki, Maria, Memo, Massimiliano, Messer, Andrew, Donkervoort, Sandra, Bonneman, Carsten, Nowak, Kristen, Ong, Royston, McNamara, Elyshia

Journal:

Biophysical Journal

Year:

2016

Language:

english

File:

PDF, 60 KB

english, 2016

99

Postoperative antibiotic use in the treatment of acute cholecystitis: a randomized multicentre noninferiority trial

Loozen, C.S., Oor, J.E., Kortram, K., van Geloven, A.W., van Duijvendijk, P., Nieuwegenhuijzen, G.A., Donkervoort, S.C., Gobel, A., Vlaminckx, B.J., Knibbe, C.A., Kelder, J.C., Kornmann, V.N., Besseli

Journal:

Year:

2016

Language:

english

File:

PDF, 55 KB

english, 2016

100

Muscle MRI findings in myopathies due to FHL1 mutation

Mohassel, P., Donkervoort, S., Dastgir, J., Munell, F., Sanchez, A., Haverlova, J., Manzur, A., Quijano-Roy, S., Tasca, G., Udd, B., Muntoni, F., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015