E. Kamsteeg
发表
H. J. Schelhaas,
S. de Bot,
B. P. Van de Warrenburg,
2012,
Brain : a journal of neurology.
Hagai Bergman,
Dagmar Wieczorek,
Zvi Israel,
2016,
Nature Genetics.
L. Vissers,
R. Pfundt,
M. Reijnders,
2016,
Nature Neuroscience.
Klaus Lehnert,
Holger Lerche,
Annapurna Poduri,
2018,
American journal of human genetics.
François Dubeau,
Guillaume Bourque,
Ange-Line Bruel,
2017,
American journal of human genetics.
L. Vissers,
R. Pfundt,
N. de Leeuw,
2016,
Genetics in Medicine.
P. Deen,
C. van Os,
E. Kamsteeg,
2000,
Nephron Experimental Nephrology.
Christian Gilissen,
Ilse Feenstra,
Nienke Wieskamp,
2013,
Human mutation.
L. H. van den Berg,
J. Veldink,
W. D. den Dunnen,
2012,
Brain : a journal of neurology.
E. Kamsteeg,
J. F. de Rijk-van Andel,
I. M. van de Laar,
2021,
Child neurology open.
P. Deen,
C. van Os,
E. Kamsteeg,
1999,
The EMBO journal.
P. Deen,
C. van Os,
E. Kamsteeg,
2000,
The Journal of cell biology.
P. Deen,
C. van Os,
E. Kamsteeg,
2001,
Pflügers Archiv.
D. Bichet,
P. Deen,
C. van Os,
2003,
The Journal of cell biology.
L. Marner,
L. Møller,
E. Kamsteeg,
2017,
The Cerebellum.
M. Roberts,
B. Engelen,
F. Muntoni,
2013,
Neuromuscular Disorders.
B. Engelen,
H. Scheffer,
B. Küsters,
2015,
European journal of neurology.
G. Hendriks,
M. Boone,
P. Deen,
2006,
Proceedings of the National Academy of Sciences.
P. Deen,
R. Hoover,
E. Kamsteeg,
2010,
American journal of physiology. Renal physiology.
Qiuyun Chen,
E. Kamsteeg,
M. Willemsen,
2018,
European Journal of Human Genetics.
J. Rendu,
P. Laforêt,
J. Vissing,
2018,
Acta neurologica Scandinavica.
R. Pfundt,
J. Verhoeven,
H. Brunner,
2018,
Epilepsia.
Beryl B. Cummings,
Jamie L. Marshall,
D. MacArthur,
2018,
Annals of neurology.
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
L. Vissers,
C. Gilissen,
E. Kamsteeg,
2020,
medRxiv.
B. P. Van de Warrenburg,
H. van Bokhoven,
E. Kamsteeg,
2021,
Journal of Neurology.
M. Ekker,
C. Ross,
W. Wasserman,
2019,
Brain : a journal of neurology.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2020,
Neuromuscular Disorders.
Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases
L. Vissers,
J. Veltman,
T. Kleefstra,
2016,
Journal of Genetic Counseling.
P. Pagel,
M. Caplan,
P. Deen,
2007,
Proceedings of the National Academy of Sciences.
F. V. van Ittersum,
M. Verbeek,
R. Wevers,
2020,
Journal of inherited metabolic disease.
P. Deen,
C. van Os,
E. Kamsteeg,
2000,
Pflügers Archiv.
C. Gilissen,
S. de Bot,
B. P. Van de Warrenburg,
2016,
European Journal of Human Genetics.
D. Goldstein,
A. Allen,
T. Strom,
2018,
The EMBO journal.
M. Charlton,
H. Bokhoven,
T. Roscioli,
2015
.
L. Schöls,
O. Riess,
M. Synofzik,
2019,
Parkinsonism & related disorders.
L. Vissers,
R. Pfundt,
M. Nelen,
2022,
Genome medicine.
S. Arold,
E. Kamsteeg,
M. Alfadhel,
2018,
American journal of medical genetics. Part A.
A. Mahmoud,
E. Kamsteeg,
M. Alfadhel,
2016,
Developmental medicine and child neurology.
B. W. van Balkom,
P. Deen,
E. Kamsteeg,
2000,
Current opinion in nephrology and hypertension.
B. P. Warrenburg,
M. Verbeek,
E. Kamsteeg,
2014,
Journal of Neurology.
P. Sluijs,
G. Hendriks,
P. Deen,
2008,
Pflügers Archiv - European Journal of Physiology.
E. Kamsteeg,
P. Deen,
2001,
Biochemical and biophysical research communications.
B. W. van Balkom,
P. Deen,
E. Kamsteeg,
2000,
European journal of cell biology.
M. Ferrari,
J. Duncan,
H. Scheffer,
2015,
Cephalalgia : an international journal of headache.
D. Zafeiriou,
B. Weschke,
A. Mégarbané,
2010,
Brain : a journal of neurology.
B. P. Warrenburg,
M. Verbeek,
E. Kamsteeg,
2013,
Movement disorders : official journal of the Movement Disorder Society.
M. Caplan,
A. Duffield,
E. Kamsteeg,
2007,
Current opinion in nephrology and hypertension.
Richard D Emes,
A. Hoischen,
P. Scambler,
2013,
Journal of Medical Genetics.
B. V. van Bon,
J. Veltman,
M. Verbeek,
2017,
European Journal of Human Genetics.
B. Hamel,
E. Kamsteeg,
M. Dekker,
2020,
Tremor and other hyperkinetic movements.
E. Kamsteeg,
M. Willemsen,
J. Nicolai,
2018,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
J. Gécz,
B. Bloem,
S. Berkovic,
2013,
Brain : a journal of neurology.
J. Ziegler,
S. Tangye,
J. Church,
2012,
The Journal of allergy and clinical immunology.
D. Grozeva,
Hiromi Hirata,
R. Guerreiro,
2022,
Movement disorders : official journal of the Movement Disorder Society.
R. Pfundt,
S. Smeekens,
M. Nelen,
2022,
Human mutation.
N. Drouot,
A. Durr,
M. Koenig,
2014,
JAMA neurology.
N. Brown,
B. D. de Vries,
W. Chung,
2021,
American journal of medical genetics. Part A.
F. van Petegem,
N. Voermans,
E. Kamsteeg,
2021,
British journal of anaesthesia.
A. Hoischen,
T. Meitinger,
T. Strom,
2017,
American journal of human genetics.
P. Praamstra,
B. P. Van de Warrenburg,
E. Kamsteeg,
2020,
Parkinsonism & related disorders.
J. Veldink,
B. P. Warrenburg,
H. Scheffer,
2013,
Journal of Neurology.
C. Saris,
B. V. van Engelen,
D. Barge-Schaapveld,
2019,
Journal of neuromuscular diseases.
C. Krarup,
F. Muntoni,
P. Ruben,
2015,
Brain : a journal of neurology.
H. J. Schelhaas,
B. P. Warrenburg,
M. Knaap,
2013,
European Journal of Human Genetics.
N. Voermans,
A. Tieleman,
E. Kamsteeg,
2022,
Neurology.
E. Fliers,
D. Swaab,
E. Endert,
2011,
European journal of endocrinology.
L. Vissers,
R. Pfundt,
N. de Leeuw,
2016,
Genetics in medicine : official journal of the American College of Medical Genetics.
P. Deen,
A. Vandewalle,
E. Kamsteeg,
2006,
Journal of the American Society of Nephrology : JASN.
R. Pfundt,
L. Hoefsloot,
N. Knoers,
2011,
European Journal of Human Genetics.
B. P. Warrenburg,
H. Scheffer,
H. Kremer,
2013,
Journal of Neurology.
P. Deen,
E. Kamsteeg,
P. Deen,
2000,
American journal of physiology. Renal physiology.
E. Kamsteeg,
P. Deen,
2000
.
N. Voermans,
E. Kamsteeg,
D. Lederer,
2017,
Genetics in Medicine.
K. Dahan,
O. Devuyst,
N. Knoers,
2015,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
C. Cremers,
J. Cruysberg,
N. Knoers,
2010,
The Annals of otology, rhinology, and laryngology.
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
F. Muntoni,
L. Santoro,
J. Vissing,
2022,
Brain communications.
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
R. Rodenburg,
M. Adjobo-Hermans,
P. Willems,
2022,
bioRxiv.
N. Voermans,
V. Biancalana,
E. Kamsteeg,
2017,
Journal of neuromuscular diseases.
E. Kamsteeg,
J. Nicolai,
S. Sallevelt,
2021,
Neurology: Genetics.
B. V. van Engelen,
N. Voermans,
E. Kamsteeg,
2021,
Clinical genetics.
A. Laquérriere,
N. Romero,
R. Carlier,
2017,
Acta Neuropathologica.
M. Jennings,
B. W. van Balkom,
M. Caplan,
2002,
American journal of physiology. Renal physiology.
Saskia M. J. Hopman,
R. Pfundt,
E. van Binsbergen,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2020,
Practical Neurology.
P. van der Sluijs,
P. Deen,
E. Kamsteeg,
2009,
Human mutation.
D. MacArthur,
M. Lek,
N. Clarke,
2016,
Neurology.
D. Bichet,
P. Deen,
P. van der Sluijs,
2004,
Human molecular genetics.
E. Speel,
C. Stumpel,
E. Kamsteeg,
2016,
Fetal and pediatric pathology.
J. Verhoeven,
H. Braakman,
E. Kamsteeg,
2019,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. Verbeek,
H. Scheffer,
R. Wevers,
2013,
JAMA neurology.
H. Scheffer,
T. Ben-Omran,
E. Kamsteeg,
2009,
Neuropediatrics.
R. Rodenburg,
E. Kamsteeg,
J. Cobben,
2018,
Molecular genetics and metabolism reports.
Jun Z. Li,
Catherine A. Collins,
N. Brüggemann,
2018,
Annals of neurology.
Carel Meijers,
Misha Angrist,
Aravinda Chakravarti,
1996,
Nature Genetics.
P. Deen,
J. Cartron,
P. Ripoche,
1999,
The Journal of Biological Chemistry.
P. Sluijs,
D. Bichet,
P. Deen,
1998,
The Journal of clinical investigation.
R. González-Sarmiento,
E. Kamsteeg,
A. Torrelo,
2016,
Pediatric dermatology.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2015,
Neuromuscular Disorders.
H. Brunner,
R. Rodenburg,
C. Ferreira,
2021,
Acta Neuropathologica.
Philipp Pagel,
P. Pagel,
M. Caplan,
2003,
Proceedings of the National Academy of Sciences of the United States of America.
K. Bötzel,
R. Jech,
B. Haslinger,
2020,
Annals of neurology.
M. Nelen,
H. Scheffer,
K. Neveling,
2015,
Clinical chemistry.
L. Vissers,
R. Pfundt,
M. Reijnders,
2016,
bioRxiv.
A. Hoischen,
T. Meitinger,
T. Strom,
2016
.
D. Misceo,
D. Schneidman-Duhovny,
J. Duncan,
2020,
bioRxiv.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
S. Antonarakis,
E. Falconnet,
H. Bellen,
2019,
American journal of human genetics.
H. van Bokhoven,
N. Voermans,
G. Tasca,
2019,
Clinical chemistry.
Gert Jan van der Wilt,
Janneke Grutters,
Han G Brunner,
2017,
Genetics in Medicine.
O. Devuyst,
N. Knoers,
E. Kamsteeg,
2011,
European Journal of Human Genetics.
A. V. Vulto-van Silfhout,
L. Vissers,
J. Schuurs-Hoeijmakers,
2012,
American journal of human genetics.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2021,
European Journal of Human Genetics.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2021,
European Journal of Human Genetics.
S. Züchner,
R. Schüle,
A. Schenck,
2018,
Brain : a journal of neurology.
K. Kandaswamy,
E. Aronica,
P. Bauer,
2019,
Acta Neuropathologica.
K. Kandaswamy,
E. Aronica,
P. Bauer,
2019,
bioRxiv.
Fever‐induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene
B. Engelen,
L. Kluijtmans,
N. Voermans,
2014,
Internal medicine journal.
A. Bjorksten,
E. Kamsteeg,
P. Hopkins,
2022,
British journal of anaesthesia.
J. Holton,
B. Küsters,
N. Voermans,
2019,
Journal of Neurology.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2016,
Cell Biochemistry and Biophysics.
M. van der Burg,
G. Mancini,
E. Kamsteeg,
2020,
Pediatric neurology.
H. Brunner,
I. Martins,
P. Coutinho,
2012,
Genetics in Medicine.
J. Schuurs-Hoeijmakers,
M. Reijnders,
H. Brunner,
2018,
American journal of human genetics.
S. Dib-Hajj,
S. Waxman,
P. Praamstra,
2015,
Journal of Medical Genetics.
L. Vissers,
J. Hardy,
C. Davies,
2016,
American journal of human genetics.
G. Rouleau,
Eunjoon Kim,
T. Kleefstra,
2015,
Human mutation.
R. Pfundt,
G. Carvill,
I. Scheffer,
2018,
Annals of neurology.
N. van Alfen,
B. Chung,
E. Kamsteeg,
2018,
Neuromuscular Disorders.
M. Verbeek,
B. V. van Engelen,
R. Wevers,
2013,
Neurology.
R. Rodenburg,
G. Bassez,
B. V. van Engelen,
2020,
Brain : a journal of neurology.
B. Engelen,
L. V. D. Heuvel,
G. Drost,
2012,
Neuromuscular Disorders.
M. Tijssen,
D. Sival,
E. Kamsteeg,
2020,
European Journal of Human Genetics.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2022,
Neurology.
C. Bönnemann,
A. Foley,
N. Voermans,
2021,
Neurology.
N. van Alfen,
B. V. van Engelen,
N. Voermans,
2022,
Brain communications.
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
T. Irving,
L. Medne,
C. Ottenheijm,
2021,
The Journal of clinical investigation.
B. Engelen,
J. Custers,
N. Voermans,
2019,
Neuromuscular Disorders.
B. Engelen,
F. Muntoni,
N. Voermans,
2013,
Journal of Neurology.
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome
W. Halliday,
K. Buysse,
D. Stemple,
2013,
Human molecular genetics.
C. Bönnemann,
T. Lehky,
H. Lochmüller,
2020,
American journal of medical genetics. Part A.
T. Crawford,
F. Muntoni,
R. Weiss,
2015,
Human Mutation.
N. van Alfen,
H. Smeets,
B. V. van Engelen,
2021,
BMC Neurology.
Christian Gilissen,
Han G. Brunner,
Michael F. Buckley,
2012,
Nature Genetics.
F. Muntoni,
M. Gautel,
I. Richard,
2021,
Acta Neuropathologica.
B. D. de Vries,
C. Saris,
L. H. van den Berg,
2019,
European Journal of Human Genetics.
J. Verhoeven,
L. Speth,
C. Stumpel,
2019,
Neuropediatrics.
N. de Leeuw,
E. Sistermans,
E. Peeters,
2008,
Clinical genetics.
A. Wilde,
B. Engelen,
G. Drost,
2018,
Neuromuscular Disorders.
T. Bast,
R. Wevers,
E. Kamsteeg,
2012,
Neuropediatrics.
O. Devuyst,
N. Knoers,
E. Kamsteeg,
2011
.
R. Pfundt,
N. de Leeuw,
C. Gilissen,
2023,
European Journal of Human Genetics.
C. Saris,
G. Meola,
K. Jurkat-Rott,
2017,
Neuromuscular Disorders.
P. Van der valk,
E. Kamsteeg,
J. V. van Wijk,
2012,
Clinical nephrology.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2021,
European Journal of Human Genetics.
A. Pagnamenta,
Changlian Zhu,
T. Strom,
2021,
Brain : a journal of neurology.
M. Schwartz,
B. V. van Engelen,
H. Scheffer,
2012,
European Journal of Human Genetics.
B. Engelen,
M. Schwartz,
H. Scheffer,
2010
.
A. Durr,
C. Depienne,
A. Brice,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
G. Tamma,
P. Deen,
E. Kamsteeg,
2009,
Human mutation.
H. C. Stronks,
B. W. van Balkom,
G. Hendriks,
2009,
Journal of the American Society of Nephrology : JASN.
P. Deen,
P. van der Sluijs,
E. Kamsteeg,
2005,
Journal of the American Society of Nephrology : JASN.
A. Hoischen,
N. Drouot,
J. Veltman,
2010,
American journal of human genetics.
J. Schuurs-Hoeijmakers,
M. Reijnders,
H. Brunner,
2018,
American journal of human genetics.
L. H. van den Berg,
M. V. van Es,
J. Veldink,
2021,
Amyotrophic lateral sclerosis & frontotemporal degeneration.
O. Suchowersky,
G. Rouleau,
S. Ashtiani,
2019,
European journal of medical genetics.
E. Brilstra,
E. Kamsteeg,
M. Willemsen,
2019,
Brain : a journal of neurology.
C. Bönnemann,
N. Voermans,
E. Kamsteeg,
2021,
Neurology.
R. Hennekam,
T. Roscioli,
R. Lindeman,
2009,
Human molecular genetics.
M. S. van der Knaap,
E. Kamsteeg,
M. Willemsen,
2018,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
D. Grozeva,
H. Bergman,
D. Arkadir,
2017,
Nature Genetics.
R. Lea,
T. Bird,
S. Mossman,
2013,
Journal of Neurology.
H. Houlden,
P. Syrris,
B. Küsters,
2022,
Journal of the American Heart Association.
Ellen F. Macnamara,
J. Constantino,
J. Graham,
2023,
Science advances.
A. Schenck,
E. Kamsteeg,
Ilse Eidhof,
2020,
Brain.
E. Kamsteeg,
S. D. de Bot,
B. V. D. van de Warrenburg,
2017,
Brain : a journal of neurology.
R. Pfundt,
N. Alfen,
A. Beggs,
2012,
Neuromuscular Disorders.
Philipp Pagel,
Erik-Jan Kamsteeg,
P. Pagel,
2003,
Proceedings of the National Academy of Sciences of the United States of America.
Bart P C van de Warrenburg,
Erik-Jan Kamsteeg,
E. Kamsteeg,
2016,
Pediatric neurology.
Ellen F. Macnamara,
E. Eklund,
C. Toro,
2021,
Brain : a journal of neurology.
M. Topf,
M. Heys,
M. Kurian,
2023,
Cells.
N. Cobben,
P. Wijkstra,
N. Voermans,
2023,
Neuromuscular Disorders.
R. Helmich,
E. Kamsteeg,
M. Willemsen,
2020,
Parkinsonism & related disorders.
E. Kamsteeg,
N. Verbeek,
R. Derks,
2023,
Movement disorders : official journal of the Movement Disorder Society.
L. H. van den Berg,
M. V. van Es,
J. Veldink,
2023,
Journal of Neurology.
B. Kremer,
J. D. de Vries,
R. van de Berg,
2022,
Journal of Neurology.
K. Claeys,
R. Kley,
N. Voermans,
2017,
Neuromuscular Disorders.
A. Hoischen,
T. Meitinger,
T. Strom,
2020,
American journal of human genetics.
N. Voermans,
E. Kamsteeg,
H. Jungbluth,
2022,
Anesthesiology.
N. van Alfen,
B. V. van Engelen,
N. Voermans,
2023,
Journal of neuromuscular diseases.
A. Vincent,
B. Eymard,
B. Jacobs,
2022,
Journal of neuromuscular diseases.
N. Cobben,
P. Wijkstra,
N. Voermans,
2023,
Neuromuscular Disorders.
N. van Alfen,
B. V. van Engelen,
N. Voermans,
2023,
Neurology: Genetics.
M. Caplan,
H. Sterling,
Wen‐Hui Wang,
2008,
Journal of Biological Chemistry.
B. Eymard,
N. Voermans,
L. Eshuis,
2022,
Journal of neuromuscular diseases.
N. Alfen,
E. Kamsteeg,
C. Erasmus,
2014,
Journal of Pediatric Neurology.
Qiuyun Chen,
E. Kamsteeg,
M. Willemsen,
2017,
bioRxiv.
H. Brunner,
E. Kamsteeg,
M. Paucar,
2023,
International journal of molecular sciences.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
2023,
Human Genomics.
C. Gilissen,
H. Scheffer,
S. Vermeer,
2017,
European Journal of Human Genetics.
Qiuyun Chen,
E. Kamsteeg,
M. Willemsen,
2018,
European Journal of Human Genetics.
I. Scheffer,
H. Mefford,
E. Haan,
2019,
American Journal of Human Genetics.
D. Grozeva,
H. Bergman,
D. Arkadir,
2016,
Nature Genetics.
J. Ziegler,
S. Tangye,
J. Church,
2012
.
J. Rosenfeld,
I. Scheffer,
H. Mefford,
2017,
American journal of human genetics.
R. Wadman,
E. Kamsteeg,
Katarzyna Robaszkiewicz,
2023,
International journal of molecular sciences.
J. Lupski,
H. Bellen,
J. Fock,
2022,
Human molecular genetics.
N. Brown,
B. D. de Vries,
W. Chung,
2022,
American journal of medical genetics. Part A.
T. Kleefstra,
B. V. van Engelen,
H. Houlden,
2012,
Journal of the peripheral nervous system : JPNS.
D. Bichet,
P. Deen,
C. van Os,
2003,
The Journal of cell biology.
A. Hoischen,
R. Pfundt,
C. Gilissen,
2023,
Nature communications.