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Martin Lammens

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Nicol C Voermans; Toin H van Kuppevelt; Gaetano Vattemi; Gea Drost; F Gualandi; V Guglielmi; Erik-Jan Kamsteeg; A E Laan; Martin Lammens; Arie Oosterhof; C Scotton; L van den Heuvel; B G M van Engelen
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.
SB Wortmann; H Barth; Michael P Champion; Kate Craig; Martin Lammens; Richard J T Rodenburg; Michiel F Schreuder; Jan A M Smeitink; Robert W Taylor; B Trutnau; Lambert van Den Heuvel; Ron A Wevers; Eva Morava
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
C W Ockeloen; Rolph Pfundt; P B Agrawal; A H Beggs; A Dara Hama-Amin; A Diekstra; H Jacobus Gilhuis; Erik-Jan Kamsteeg; N V A M Knoers; Martin Lammens; Nens van Alfen
Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

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All Publications

2012: Nicol C Voermans; Toin H van Kuppevelt; Gaetano Vattemi; Gea Drost; F Gualandi; V Guglielmi; Erik-Jan Kamsteeg; A E Laan; Martin Lammens; Arie Oosterhof; C Scotton; L van den Heuvel; B G M van Engelen
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.
Neuromuscular disorders : NMD 2012;22(11):944-54.
2012: SB Wortmann; H Barth; Michael P Champion; Kate Craig; Martin Lammens; Richard J T Rodenburg; Michiel F Schreuder; Jan A M Smeitink; Robert W Taylor; B Trutnau; Lambert van Den Heuvel; Ron A Wevers; Eva Morava
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
European journal of medical genetics 2012;55(10):552-6.
2012: C W Ockeloen; Rolph Pfundt; P B Agrawal; A H Beggs; A Dara Hama-Amin; A Diekstra; H Jacobus Gilhuis; Erik-Jan Kamsteeg; N V A M Knoers; Martin Lammens; Nens van Alfen
Congenital myopathy caused by a novel missense mutation in the CFL2 gene.
Neuromuscular disorders : NMD 2012;22(7):632-9.
2012: Mijke M M Verhagen; Corry M R Weemaes; Michèl A A P Willemsen; Chantal Ceuterick-de Groote; Berry H P H Kremer; Jean-Jacques Martin; Malcolm A R Taylor; Marcel van Deuren; Martin Lammens
Neuropathology in classical and variant ataxia-telangiectasia.
Neuropathology : official journal of the Japanese Society of Neuropathology 2012;32(3):234-44.
2012: Nicol C Voermans; C Bönnemann; M C Janssen; M Kempers; Martin Lammens; Nens van Alfen; B G M van Engelen; Ben C J Hamel
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
American journal of medical genetics. Part A 2012;158A(4):850-5.
2011: An I Jonckheere; Werner J H Koopman; Martin Lammens; Marleen Forkink; Jack A Fransen; Merei Huigsloot; Martijn A Huynen; Jitske Jansen; Jan A M Smeitink; Ute Spiekerkoetter; Radek Szklarczyk; Lambert P van den Heuvel; Jürgen-Christoph von Kleist-Retzow; Richard J T Rodenburg
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
Mitochondrion 2011;11(6):954-63.
2011: Nicol C Voermans; I A L M van Rooij; Kiek Verrijp; M C M Balemans; David Egging; L Eshuis; Martin Lammens; S M van der Maarel; Joost Schalkwijk; E Sterrenburg; Jeroen A W M van der Laak; B G M van Engelen
Mild muscular features in tenascin-X knockout mice, a model of Ehlers-danlos syndrome.
Connective tissue research 2011;52(5):422-32.
2011: Sara D J de Vries; Henk Kerkhoff; Martin Lammens; Baziel G M van Engelen; Barbara W van Paassen; Fred van Ruissen; Camiel Verhamme; Willem F Arts; Frank Baas; Marianne de Visser; Anneke J van der Kooi
The phenotype of the Gly94fsX222 PMP22 insertion.
Journal of the peripheral nervous system : JPNS 2011;16(2):113-8.
2011: Tjitske Kleefstra; SB Wortmann; Richard J T Rodenburg; Ernie M H F Bongers; Kinga Hadzsiev; C Noordam; Lambert P van den Heuvel; Willy M Nillesen; Katalin Hollody; Gabriele Gillessen-Kaesbach; Martin Lammens; Jan A M Smeitink; Ineke van der Burgt; Eva Morava
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
European journal of human genetics : EJHG 2011;19(2):138-44.
2010: T Wassenberg; Michèl A A P Willemsen; P B H Geurtz; Martin Lammens; Kiek Verrijp; Martijn J G Wilmer; W T Lee; Ron A Wevers; Marcel M Verbeek
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.
Molecular genetics and metabolism 2010;101(4):349-56.
2009: Hans J ten Donkelaar; Martin Lammens
Development of the human cerebellum and its disorders.
Clinics in perinatology 2009;36(3):513-30.
2009: Nicol C Voermans; J Timmermans; Nens van Alfen; Sigrid Pillen; J op den Akker; Martin Lammens; Machiel J Zwarts; I A L M van Rooij; Ben C J Hamel; B G M van Engelen
Neuromuscular features in Marfan syndrome.
Clinical genetics 2009;76(1):25-37.
2009: Dirk J Lefeber; Johannes Schönberger; Eva Morava; Mailys Guillard; Karin M Huyben; Kiek Verrijp; Olga Grafakou; Athanasios Evangeliou; Frank W Preijers; Panagiota Manta; Jef Yildiz; Stephanie Grünewald; Martha Spilioti; Christa van den Elzen; Dominique Klein; daniel Hess; Hisashi Ashida; Jan Hofsteenge; Yusuke Maeda; Lambert van Den Heuvel; Martin Lammens; Ludwig Lehle; Ron A Wevers
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
American journal of human genetics 2009;85(1):76-86.
2009: Nicol C Voermans; Nens van Alfen; Sigrid Pillen; Martin Lammens; Joost Schalkwijk; Machiel J Zwarts; Iris A van Rooij; Ben C J Hamel; B G M van Engelen
Neuromuscular involvement in various types of Ehlers-Danlos syndrome.
Annals of neurology 2009;65(6):687-97.
2009: Sigrid Pillen; Ramon O Tak; Machiel J Zwarts; Martin Lammens; Kiek N Verrijp; Ilse M P Arts; Jeroen A W M van der Laak; Peter M Hoogerbrugge; Baziel G M van Engelen; Aad Verrips
Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity.
Ultrasound in medicine & biology 2009;35(3):443-6.
2009: Benno Küsters; Bas J A van Hoeve; Helenius Jurgen Schelhaas; Henk ter Laak; Baziel G M van Engelen; Martin Lammens
TDP-43 accumulation is common in myopathies with rimmed vacuoles.
Acta neuropathologica 2009;117(2):209-11.
2008: Nicol C Voermans; M Minnema; Martin Lammens; H Jurgen Schelhaas; A V D Kooi; H M Lokhorst; B G M van Engelen
Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant.
Neurology 2008;71(7):532-4.
2008: AJ Eggink; L A J Roelofs; W F J Feitz; R M H Wijnen; Martin Lammens; Reinier A Mullaart; H T B van Moerkerk; Toin H van Kuppevelt; AJ Crevels; Kiek Verrijp; Fred K Lotgering; Paul P van den Berg
Delayed intrauterine repair of an experimental spina bifida with a collagen biomatrix.
Pediatric neurosurgery 2008;44(1):29-35.
2006: Antoine Muchir; Catherine Massart; B G M van Engelen; Martin Lammens; Gisèle Bonne; Howard J Worman
Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins.
Biochemical and biophysical research communications 2006;351(4):1011-7.
2006: Maaike M Bos; Sebastiaan Overeem; B G M van Engelen; Hans Scheffer; Christa van den Elzen; Henk ter Laak; Martin Lammens; H Jurgen Schelhaas; Machiel J Zwarts
A case of neuromuscular mimicry.
Neuromuscular disorders : NMD 2006;16(8):510-3.
2006: J A P Hiel; B G M van Engelen; Corry M R Weemaes; Annegien Broeks; Aad Verrips; Henk ter Laak; H M Vingerhoets; Lambert P van den Heuvel; Martin Lammens; Fons J M Gabreëls; J I Last; A M R Taylor
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.
Neurology 2006;67(2):346-9.
2006: Hanneke W M van Laarhoven; Giulio Gambarota; Jasper Lok; Martin Lammens; Yvonne L M Kamm; Theo Wagener; Cornelis J A Punt; Albert J van der Kogel; Arend Heerschap
Carbogen breathing differentially enhances blood plasma volume and 5-fluorouracil uptake in two murine colon tumor models with a distinct vascular structure.
Neoplasia (New York, N.Y.) 2006;8(6):477-87.
2006: Nicol C Voermans; Gea Drost; A van Kampen; A A Gabreëls-Festen; Martin Lammens; Ben C J Hamel; Joost Schalkwijk; B G M van Engelen
Recurrent neuropathy associated with Ehlers-Danlos syndrome.
Journal of neurology 2006;253(5):670-1.
2006: AJ Eggink; L A J Roelofs; Martin Lammens; W F J Feitz; R M H Wijnen; Reinier A Mullaart; H T B van Moerkerk; Toin H van Kuppevelt; AJ Crevels; A Hanssen; Fred K Lotgering; Paul P van den Berg
Histological evaluation of acute covering of an experimental neural tube defect with biomatrices in fetal sheep.
Fetal diagnosis and therapy 2006;21(2):210-6.
2005: George Shabo; Hans Scheffer; J R M Cruysberg; Martin Lammens; Jaco W Pasman; Maarten Spruit; Michèl A A P Willemsen
Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.
Pediatric neurology 2005;33(4):277-9.
2005: AJ Eggink; L A J Roelofs; W F J Feitz; R M H Wijnen; Reinier A Mullaart; André Grotenhuis; Toin H van Kuppevelt; Martin Lammens; AJ Crevels; A Hanssen; Paul P van den Berg
In utero repair of an experimental neural tube defect in a chronic sheep model using biomatrices.
Fetal diagnosis and therapy 2005;20(5):335-40.
2005: Harriëtte T F M Verzijl; Bert van der Zwaag; Martin Lammens; Hans J ten Donkelaar; George W Padberg
The neuropathology of hereditary congenital facial palsy vs Möbius syndrome.
Neurology 2005;64(4):649-53.
2005: B G M van Engelen; Antoine Muchir; Christopher J Hutchison; Anneke J van der Kooi; Gisèle Bonne; Martin Lammens
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.
Neurology 2005;64(2):374-6.
2005: Michèl A A P Willemsen; Guido J Breedveld; Siep Wouda; Barto J Otten; Jan L Yntema; Martin Lammens; Bert B A de Vries
Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.
European journal of pediatrics 2005;164(1):28-30.
2004: Hans J ten Donkelaar; Martin Lammens; P Wesseling; A Hori; Antoine Keyser; Jan J Rotteveel
Development and malformations of the human pyramidal tract.
Journal of neurology 2004;251(12):1429-42.
2003: Antoine Muchir; B G M van Engelen; Martin Lammens; John M K Mislow; Elizabeth McNally; Ketty Schwartz; Gisèle Bonne
Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.
Experimental cell research 2003;291(2):352-62.
2003: Hans J ten Donkelaar; Martin Lammens; P Wesseling; Henk O M Thijssen; Willy O Renier
Development and developmental disorders of the human cerebellum.
Journal of neurology 2003;250(9):1025-36.
2003: Martin Lammens; J A P Hiel; Fons J M Gabreëls; B G M van Engelen; Lambert P van den Heuvel; Corry M R Weemaes
Nijmegen breakage syndrome: a neuropathological study.
Neuropediatrics 2003;34(4):189-93.
2003: N A van Venrooij; J J Lenders; Martin Lammens; J H J M van Krieken
[Autopsy are a useful quality instrument because of unexpected clinical relevant findings and the answering of clinical questions; a retrospective study].
Nederlands tijdschrift voor geneeskunde 2003;147(27):1318-22.
2003: I M P Gommans; M Davis; K Saar; Martin Lammens; Frank L Mastaglia; P Lamont; Gerard van Duijnhoven; Henk ter Laak; A Reis; O J M Vogels; Nigel Laing; B G M van Engelen; Hannie Kremer
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
Brain : a journal of neurology 2003;126(Pt 7):1545-51.
2002: Martin Horstink; Bart P C van de Warrenburg; Martin Lammens; Alexis Brice
Parkin gene related neuronal multisystem disorder.
Journal of neurology, neurosurgery, and psychiatry 2002;72(3):419-20.
2002: Niels Geerdink; Jan J Rotteveel; Martin Lammens; Erik A Sistermans; G T Heikens; Fons J M Gabreëls; Reinier A Mullaart; Ben C J Hamel
MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.
Neuropediatrics 2002;33(1):33-6.
2002: I M P Gommans; B G M van Engelen; Henk ter Laak; H G Brunner; Hannie Kremer; Martin Lammens; O J M Vogels
A new phenotype of autosomal dominant nemaline myopathy.
Neuromuscular disorders : NMD 2002;12(1):13-8.
2001: Johanna M M Gijtenbeek; A A Gabreëls-Festen; Martin Lammens; M J Zwarts; B G M van Engelen
Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2.
Neurology 2001;56(12):1766-8.
2001: Sandra H E Sprenger; Johanna M M Gijtenbeek; Pieter Wesseling; Raf Sciot; F van Calenbergh; Martin Lammens; Judith W M Jeuken
Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas revealed by comparative genomic hybridization.
Journal of neuro-oncology 2001;52(3):241-7.
2001: Hans J ten Donkelaar; Martin Lammens; P Wesseling; Henk O M Thijssen; Willy O Renier; Fons J M Gabreëls
[Development and developmental disorders of the human brain. III. Neuronal migration disorders of the cerebrum].
Nederlands tijdschrift voor geneeskunde 2001;145(10):466-74.
2001: Hans J ten Donkelaar; P Wesseling; Martin Lammens; Henk O M Thijssen; Willy O Renier; Fons J M Gabreëls
[Development and developmental disorders of the human brain. II. Development of the cerebral cortex and major tract systems].
Nederlands tijdschrift voor geneeskunde 2001;145(9):401-10.
2001: Bart P C van de Warrenburg; Martin Lammens; Christoph B Lücking; Patrice DENEFLE; Pieter Wesseling; J Booij; Peter Praamstra; Niall Quinn; Alexis Brice; Martin Horstink
Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations.
Neurology 2001;56(4):555-7.
2001: Hans J ten Donkelaar; P Wesseling; Martin Lammens; Willy O Renier; Reinier A Mullaart; Henk O M Thijssen
[Development and the developmental disorders of human brain. I. Early development of the cerebrum].
Nederlands tijdschrift voor geneeskunde 2001;145(8):345-53.