E J Kamsteeg

Affiliations

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

Publications (8)

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.

Neuropediatrics

Avec: A E Van Beusichem , J Nicolai , J Verhoeven , L Speth , M Coenen , M A Willemsen , E J Kamsteeg , C Stumpel , R J Vermeulen

HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review.

Neuromuscular disorders : NMD

Avec: N Kruijt , L R van den Bersselaar , J Wijma , W Verbeeck , M J H Coenen , J Neville , M Snoeck , E J Kamsteeg , H Jungbluth , C Kramers , N C Voermans

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study.

Neuromuscular disorders : NMD

Avec: E van Ruitenbeek , J A E Custers , C Verhaak , M Snoeck , C E Erasmus , E J Kamsteeg , M I Schouten , C Coleman , S Treves , B G Van Engelen , H Jungbluth , N C Voermans

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.

European journal of neurology

Avec: N Kruijt , L R van den Bersselaar , E J Kamsteeg , W Verbeeck , M M J Snoeck , D S Everaerd , W F Abdo , D R M Jansen , C E Erasmus , H Jungbluth , N C Voermans

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.

Brain : a journal of neurology

Avec: Joery P Molenaar , Jamie I Verhoeven , Richard J Rodenburg , Erik J Kamsteeg , Corrie E Erasmus , Savine Vicart , Anthony Behin , Guillaume Bassez , Armelle Magot , Yann Péréon , Barbara W Brandom , Valeria Guglielmi , Gaetano Vattemi , Frédéric Chevessier , Jean Mathieu , Jérôme Franques , Karen Suetterlin , Michael G Hanna , Lucie Guyant-Marechal , Marc M Snoeck , Mark E Roberts , Thierry Kuntzer , Roberto Fernandez-Torron , Amaia Martínez-Arroyo , Juergen Seeger , Benno Kusters , Susan Treves , Baziel G van Engelen , Bruno Eymard , Nicol C Voermans , Damien Sternberg

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.

BMC neurology

Avec: E C M de Laat , S L S Houwen-van Opstal , K Bouman , J L M van Doorn , D Cameron , N van Alfen , A T M Dittrich , E J Kamsteeg , H J M Smeets , J T Groothuis , C E Erasmus , N C Voermans , Nicol C Voermans

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

American journal of medical genetics. Part A

Avec: Lauren O'Grady , Samantha A Schrier Vergano , Trevor L Hoffman , Dean Sarco , Sara Cherny , Emily Bryant , Laura Schultz-Rogers , Wendy K Chung , Stephanie Sacharow , Ladonna L Immken , Susan Holder , Rebecca R Blackwell , Catherine Buchanan , Roman Yusupov , François Lecoquierre , Anne-Marie Guerrot , Lance Rodan , Bert B A de Vries , Erik Jan Kamsteeg , Fernando Santos Simarro , Maria Palomares-Bralo , Natasha Brown , Lynn Pais , Alejandro Ferrer , Eric W Klee , Dusica Babovic-Vuksanovic , Lindsay Rhodes , Richard Person , Amber Begtrup , Jennifer Keller-Ramey , Teresa Santiago-Sim , Rhonda E Schnur , David A Sweetser , Nina B Gold

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11.

Journal of neuromuscular diseases

Avec: J J Kramer , H T M Boon , Q H Leijten , Henk Ter Laak , L Eshuis , B Kusters , J L M van Doorn , E J Kamsteeg , B Eymard , J Doorduin , N C Voermans

Réseau de co-auteurs

N C Voermans 5 collaborations

H Jungbluth 3 collaborations

C E Erasmus 3 collaborations

N Kruijt 2 collaborations

L R van den Bersselaar 2 collaborations

W Verbeeck 2 collaborations

M Snoeck 2 collaborations

Nicol C Voermans 2 collaborations

J L M van Doorn 2 collaborations

A E Van Beusichem 1 collaboration

J Nicolai 1 collaboration

J Verhoeven 1 collaboration

L Speth 1 collaboration

M Coenen 1 collaboration

M A Willemsen 1 collaboration

C Stumpel 1 collaboration

R J Vermeulen 1 collaboration

J Wijma 1 collaboration

M J H Coenen 1 collaboration

J Neville 1 collaboration

C Kramers 1 collaboration

E van Ruitenbeek 1 collaboration

J A E Custers 1 collaboration

C Verhaak 1 collaboration

M I Schouten 1 collaboration

C Coleman 1 collaboration

S Treves 1 collaboration

B G Van Engelen 1 collaboration

M M J Snoeck 1 collaboration

D S Everaerd 1 collaboration

W F Abdo 1 collaboration

D R M Jansen 1 collaboration

Joery P Molenaar 1 collaboration

Jamie I Verhoeven 1 collaboration

Richard J Rodenburg 1 collaboration

Erik J Kamsteeg 1 collaboration

Corrie E Erasmus 1 collaboration

Savine Vicart 1 collaboration

Anthony Behin 1 collaboration

Guillaume Bassez 1 collaboration

Armelle Magot 1 collaboration

Yann Péréon 1 collaboration

Barbara W Brandom 1 collaboration

Valeria Guglielmi 1 collaboration

Gaetano Vattemi 1 collaboration

Frédéric Chevessier 1 collaboration

Jean Mathieu 1 collaboration

Jérôme Franques 1 collaboration

Karen Suetterlin 1 collaboration

Michael G Hanna 1 collaboration

Lucie Guyant-Marechal 1 collaboration

Marc M Snoeck 1 collaboration

Mark E Roberts 1 collaboration

Thierry Kuntzer 1 collaboration

Roberto Fernandez-Torron 1 collaboration

Amaia Martínez-Arroyo 1 collaboration

Juergen Seeger 1 collaboration

Benno Kusters 1 collaboration

Susan Treves 1 collaboration

Baziel G van Engelen 1 collaboration

Bruno Eymard 1 collaboration

Damien Sternberg 1 collaboration

E C M de Laat 1 collaboration

S L S Houwen-van Opstal 1 collaboration

K Bouman 1 collaboration

D Cameron 1 collaboration

N van Alfen 1 collaboration

A T M Dittrich 1 collaboration

H J M Smeets 1 collaboration

J T Groothuis 1 collaboration

Lauren O'Grady 1 collaboration

Samantha A Schrier Vergano 1 collaboration

Trevor L Hoffman 1 collaboration

Dean Sarco 1 collaboration

Sara Cherny 1 collaboration

Emily Bryant 1 collaboration

Laura Schultz-Rogers 1 collaboration

Wendy K Chung 1 collaboration

Stephanie Sacharow 1 collaboration

Ladonna L Immken 1 collaboration

Susan Holder 1 collaboration

Rebecca R Blackwell 1 collaboration

Catherine Buchanan 1 collaboration

Roman Yusupov 1 collaboration

François Lecoquierre 1 collaboration

Anne-Marie Guerrot 1 collaboration

Lance Rodan 1 collaboration

Bert B A de Vries 1 collaboration

Erik Jan Kamsteeg 1 collaboration

Fernando Santos Simarro 1 collaboration

Maria Palomares-Bralo 1 collaboration

Natasha Brown 1 collaboration

Lynn Pais 1 collaboration

Alejandro Ferrer 1 collaboration

Eric W Klee 1 collaboration

Dusica Babovic-Vuksanovic 1 collaboration

Lindsay Rhodes 1 collaboration

Richard Person 1 collaboration

Amber Begtrup 1 collaboration

Jennifer Keller-Ramey 1 collaboration

Teresa Santiago-Sim 1 collaboration

Rhonda E Schnur 1 collaboration

David A Sweetser 1 collaboration

Nina B Gold 1 collaboration

J J Kramer 1 collaboration

H T M Boon 1 collaboration

Q H Leijten 1 collaboration

Henk Ter Laak 1 collaboration

L Eshuis 1 collaboration

B Kusters 1 collaboration

B Eymard 1 collaboration

J Doorduin 1 collaboration