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Mårten Kyllerman

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TOP 3
Mårten Kyllerman
Angelman syndrome.
M Coelho; Mårten Kyllerman
Belly dancer syndrome.
Elke Schubert-Hjalmarsson; Anna Öhman; Mårten Kyllerman; Eva Beckung
Pain, balance, activity, and participation in children with hypermobility syndrome.

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All Publications

2013: Mårten Kyllerman
Angelman syndrome.
Handbook of clinical neurology 2013;111():287-90.
2012: M Coelho; Mårten Kyllerman
Belly dancer syndrome.
Acta paediatrica (Oslo, Norway : 1992) 2012;101(9):e386-7.
2012: Elke Schubert-Hjalmarsson; Anna Öhman; Mårten Kyllerman; Eva Beckung
Pain, balance, activity, and participation in children with hypermobility syndrome.
Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 2012;24(4):339-44.
2012: Mikael Lundvall; Saideh Rajaei; Anna Erlandson; Mårten Kyllerman
Aetiology of severe mental retardation and further genetic analysis by high-resolution microarray in a population-based series of 6- to 17-year-old children.
Acta paediatrica (Oslo, Norway : 1992) 2012;101(1):85-91.
2011: Stefan Kölker; Mårten Kyllerman; James V Leonard; Chris Mühlhausen; Edith Müller; Jürgen G Okun; Bridget Wilcken; Avihu Boneh; Alberto B Burlina; Alessandro P Burlina; Ernst Christensen; Marjorie Dixon; Marinus Duran; Angels García-Cazorla; Stephen I Goodman; Cheryl R Greenberg; Georg F Hoffmann; David M Koeller; Peter Burgard
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Journal of inherited metabolic disease 2011;34(3):677-94.
2011: Saideh Rajaei; Anna Erlandson; Mårten Kyllerman; Margareta Albage; Isa Lundstrom; Ewa-Lotta Karrstedt; Bengt Hagberg
Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis.
Journal of child neurology 2011;26(1):65-71.
2010: Gunilla Rejnö-Habte Selassie; Anders Hedström; Gerd Viggedal; Margareta Jennische; Mårten Kyllerman
Speech, language, and cognitive dysfunction in children with focal epileptiform activity: A follow-up study.
Epilepsy & behavior : E&B 2010;18(3):267-75.
2009: Niklas Darin; Mårten Kyllerman; Anna-Lena Hård; Claes Nordborg; Jan-Eric Månsson
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009;13(6):553-5.
2009: Hanna Orlén; Atle Melberg; Raili Raininko; Eva Kumlien; Miriam Entesarian; Per Söderberg; Magnus Påhlman; Niklas Darin; Mårten Kyllerman; Eva Holmberg; Henry Engler; Urban Eriksson; Niklas Dahl
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(7):984-92.
2008: Gregor Gilfillan; Kaja K Selmer; Ingrid Roxrud; Raffaella Smith; Mårten Kyllerman; Kristin Louise Eiklid; Mette Kroken; Morten Mattingsdal; Thore Egeland; Harald Stenmark; Hans Sjøholm; Andres Server; Lena Samuelsson; Arnold Christianson; Patrick Tarpey; Annabel Whibley; Michael R Stratton; P Andrew Futreal; Jon Teague; Sarah Edkins; Jozef Gecz; Gillian Turner; F Lucy Raymond; Charles Schwartz; Roger E Stevenson; DAG UNDLIEN; Petter Strømme
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
American journal of human genetics 2008;82(4):1003-10.
2007: L Palmér; B Zetterlund; A-L Hård; K Steneryd; Mårten Kyllerman
Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002.
Neuropediatrics 2007;38(4):188-92.
2006: M Lundvall; Lena Samuelsson; Mårten Kyllerman
Male Rett phenotypes in T158M and R294X MeCP2-mutations.
Neuropediatrics 2006;37(5):296-301.
2006: L Palmér; B Zetterlund; A-L Hård; K Steneryd; Mårten Kyllerman
Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002.
Neuropediatrics 2006;37(3):154-8.
2005: Mårten Kyllerman; L Rosengren; L-M Wiklund; E Holmberg
Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease.
Neuropediatrics 2005;36(5):319-23.
2005: Jacqueline Schoumans; Claudia Ruivenkamp; E Holmberg; Mårten Kyllerman; Britt-Marie Anderlid; Magnus Nordenskjöld
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).
Journal of medical genetics 2005;42(9):699-705.
2005: Homa Tajsharghi; Niklas Darin; Elham Rekabdar; Mårten Kyllerman; Jan Wahlström; Tommy Martinsson; Anders Oldfors
Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).
European journal of human genetics : EJHG 2005;13(5):617-22.
2005: Gunilla Rejnö-Habte Selassie; Mårgareta Jennische; Mårten Kyllerman; Gerd Viggedal; Lena Hartelius
Comorbidity in severe developmental language disorders: neuropediatric and psychological considerations.
Acta paediatrica (Oslo, Norway : 1992) 2005;94(4):471-8.
2004: L Palmér; Claes Nordborg; K Steneryd; P Aman; Mårten Kyllerman
Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review.
Neuropediatrics 2004;35(5):307-11.
2004: Monica Ohlsson; Homa Tajsharghi; Niklas Darin; Mårten Kyllerman; Anders Oldfors
Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).
Neuromuscular disorders : NMD 2004;14(8-9):471-5.
2004: Eva Beckung; Suzanne Steffenburg; Mårten Kyllerman
Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome.
Developmental medicine and child neurology 2004;46(4):239-43.
2004: Homa Tajsharghi; Katharina Sunnerhagen; Niklas Darin; Mårten Kyllerman; Anders Oldfors
Induced shift in myosin heavy chain expression in myosin myopathy by endurance training.
Journal of neurology 2004;251(2):179-83.
2004: Mårten Kyllerman; Ola Skjeldal; Ernst Christensen; Gudrun Hagberg; Elisabeth Holme; Tuula Lönnquist; Liselotte Skov; Terje Rotwelt; Ulrika von Döbeln
Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2004;8(3):121-9.
2003: Anna Erlandson; Lena Samuelsson; Bengt Hagberg; Mårten Kyllerman; Mihailo Vujic; Jan Wahlström
Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients.
Genetic testing 2003;7(4):329-32.
2003: Bengt Hagberg; Anna Erlandsson; Mårten Kyllerman; Gunillla Larsson
Odd MECP2-mutated Rett variant-long-term follow-up profile to age 25.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(6):417-21.
2002: Mårten Kyllerman; G Brandberg; L-M Wiklund; J-E Månsson
Dysarthria, progressive parkinsonian features and symmetric necrosis of putamen in a family with painful lipomas (Dercum disease variant).
Neuropediatrics 2002;33(2):69-72.
2002: Homa Tajsharghi; Lars-Eric Thornell; Niklas Darin; Tommy Martinsson; Mårten Kyllerman; Jan Wahlström; Anders Oldfors
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.
Neurology 2002;58(5):780-6.
2002: Britt-Marie Anderlid; Jacqueline Schoumans; Göran Annerén; Sigrid Sahlén; Mårten Kyllerman; Mihailo Vujic; Bengt Hagberg; Elisabeth Blennow; Magnus Nordenskjöld
Subtelomeric rearrangements detected in patients with idiopathic mental retardation.
American journal of medical genetics 2002;107(4):275-84.
2001: Mårten Kyllerman; Jan-Eric Månsson; M Lichtenstein; A K Percy; Claes Nordborg
Distal infantile neuroaxonal dystrophy--a new familial variant with perineuronal argyrophilic bodies.
Acta neuropathologica 2001;102(1):83-8.
2000: Tommy Martinsson; Anders Oldfors; Niklas Darin; K Berg; Homa Tajsharghi; Mårten Kyllerman; Jan L Wahlstrom
Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(26):14614-9.
2000: Monica Jansson; Niklas Darin; Mårten Kyllerman; Tommy Martinsson; Jan Wahlström; Anders Oldfors
Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy.
Acta neuropathologica 2000;100(1):23-8.
2000: Elinor Ben-Menachem; Mårten Kyllerman; S Marklund
Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies.
Epilepsy research 2000;40(1):33-9.
2000: Ann Hellström; M Aronsson; C Axelson; Mårten Kyllerman; S Kopp; Suzanne Steffenburg; Kerstin Strömland; Otto Westphal; L Wiklund; Kerstin Albertsson-Wikland
Children with septo-optic dysplasia - how to improve and sharpen the diagnosis.
Hormone research 2000;53 Suppl 1():19-25.
1999: Tommy Martinsson; Niklas Darin; Mårten Kyllerman; Anders Oldfors; B Hallberg; Jan Wahlström
Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.
American journal of human genetics 1999;64(5):1420-6.
1999: C Gillberg; S Ehlers; Mårten Kyllerman; Paul Uvebrant
[Rare disabilities--less known syndromes. A challenge for neuropsychiatric rehabilitation].
Läkartidningen 1999;96(15):1824-6, 1829-30.
1998: Niklas Darin; Mårten Kyllerman; Jan Wahlström; Tommy Martinsson; Anders Oldfors
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles.
Annals of neurology 1998;44(2):242-8.
1998: Ulf Steffenburg; Anders Hedström; Anders Lindroth; L M Wiklund; Gudrun Hagberg; Mårten Kyllerman
Intractable epilepsy in a population-based series of mentally retarded children.
Epilepsia 1998;39(7):767-75.
1998: Mårten Kyllerman; Elinor Ben-Menachem
Zonisamide for progressive myoclonus epilepsy: long-term observations in seven patients.
Epilepsy research 1998;29(2):109-14.
1997: Claes Nordborg; Mårten Kyllerman; N Conradi; Jan-Eric Månsson
Early-infantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings.
Acta neuropathologica 1997;93(1):24-33.
1996: R Kristjánsdóttir; Paul Uvebrant; B Hagberg; Mårten Kyllerman; L M Wiklund; G Blennow; O Flodmark; L Gustavsson; S Ekholm; J E Månsson
Disorders of the cerebral white matter in children. The spectrum of lesions.
Neuropediatrics 1996;27(6):295-8.
1996: Mårten Kyllerman; Agneta Nydén; N Praquin; P Rasmussen; A K Wetterquist; A Hedström
Transient psychosis in a girl with epilepsy and continuous spikes and waves during slow sleep (CSWS).
European child & adolescent psychiatry 1996;5(4):216-21.
1996: U Steffenburg; G Hagberg; Mårten Kyllerman
Characteristics of seizures in a population-based series of mentally retarded children with active epilepsy.
Epilepsia 1996;37(9):850-6.
1996: S Steffenburg; Christopher Gillberg; U Steffenburg; Mårten Kyllerman
Autism in Angelman syndrome: a population-based study.
Pediatric neurology 1996;14(2):131-6.
1995: U Steffenburg; G Hagberg; Mårten Kyllerman
Active epilepsy in mentally retarded children. II. Etiology and reduced pre- and perinatal optimality.
Acta paediatrica (Oslo, Norway : 1992) 1995;84(10):1153-9.
1995: U Steffenburg; G Hagberg; G Viggedal; Mårten Kyllerman
Active epilepsy in mentally retarded children. I. Prevalence and additional neuro-impairments.
Acta paediatrica (Oslo, Norway : 1992) 1995;84(10):1147-52.
1995: Tomas Bergström; Sven-Olof Olofsson; Marie Studahl; Mårten Kyllerman; Niklas Darin; J Martinell; Anne Ricksten
[Gene amplification in viral CNS infections. Rapid diagnostic identification of herpesviruses].
Läkartidningen 1995;92(5):427-32.
1994: Niklas Darin; Tomas Bergström; A Fast; Mårten Kyllerman
Clinical, serological and PCR evidence of cytomegalovirus infection in the central nervous system in infancy and childhood.
Neuropediatrics 1994;25(6):316-22.
1994: S Ehlers; Mårten Kyllerman; L Rosengren
Analysis of glial fibrillary acidic protein in the cerebrospinal fluid of children investigated for encephalopathy.
Neuropediatrics 1994;25(3):129-33.
1994: M Landgren; Mårten Kyllerman; Tomas Bergström; Leif Dotevall; L Ljungström; Anne Ricksten
Diagnosis of Epstein-Barr virus-induced central nervous system infections by DNA amplification from cerebrospinal fluid.
Annals of neurology 1994;35(5):631-5.
1994: Jan Wahlström; Laurie J Ozelius; Patricia L Kramer; Mårten Kyllerman; D Schuback; L Forsgren; Gösta Holmgren; U Drugge; G Sanner; Stanley Fahn
The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q.
Clinical genetics 1994;45(2):88-92.
1994: Mårten Kyllerman; G Blennow; J E Månsson; J Wahlström; U von Döbeln
[Adrenoleukodystrophy. A disease of current interest and many aspects].
Läkartidningen 1994;91(1-2):54-6.
1994: Mårten Kyllerman; O H Skjeldal; M Lundberg; I Holme; Egil Jellum; U von Döbeln; A Fossen; G Carlsson
Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.
Movement disorders : official journal of the Movement Disorder Society 1994;9(1):22-30.
1993: Mårten Kyllerman; G Sanner; L Forsgren; Gösta Holmgren; Jan Wahlström
Early onset dystonia decreasing with development. Case report of two children with familial myoclonic dystonia.
Brain & development 1993;15(4):295-8.
1993: Mårten Kyllerman; J E Månsson; O Westphal; N Conradi; H Nellström
Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension.
Pediatric neurology 1993;9(4):318-22.
1993: Mårten Kyllerman; S Herner; Tomas Bergström; S E Ekholm
PCR diagnosis of primary herpesvirus type I in poliomyelitis-like paralysis and respiratory tract disease.
Pediatric neurology 1993;9(3):227-9.
1993: L Laegreid; Mårten Kyllerman; T Hedner; B Hagberg; G Viggedahl
Benzodiazepine amplification of valproate teratogenic effects in children of mothers with absence epilepsy.
Neuropediatrics 1993;24(2):88-92.
1992: C Nordborg; Elinor Ben-Menachem; Mårten Kyllerman
Neurovascular microdysgenesis in a case of Unverricht-Lundborg's disease.
Epilepsy research 1992;13(2):121-7.
1991: Mårten Kyllerman; Kristian Sommerfelt; A Hedström; Göran Wennergren; Daniel Holmgren
Clinical and neurophysiological development of Unverricht-Lundborg disease in four Swedish siblings.
Epilepsia 1991;32(6):900-9.
1991: Kristian Sommerfelt; Mårten Kyllerman; G Sanner
Hereditary spastic paraplegia with epileptic myoclonus.
Acta neurologica Scandinavica 1991;84(2):157-60.
1991: D Schuback; Patricia L Kramer; Laurie J Ozelius; Gösta Holmgren; L Forsgren; Mårten Kyllerman; Jan Wahlström; C M Craft; TG Nygaard; M Brin
Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.
Human genetics 1991;87(3):311-6.
1991: N Conradi; Mårten Kyllerman; Jan-Eric Månsson; Alan K Percy; Lars Svennerholm
Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings.
Acta neuropathologica 1991;82(2):152-7.
1990: Mårten Kyllerman; S Blomstrand; J E Månsson; N G Conradi; T Hindmarsh
Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy.
Neuropediatrics 1990;21(4):199-201.
1990: Catarina Darnfors; H E Larsson; Anders Oldfors; Mårten Kyllerman; Karl-Henrik Gustavson; Gunnar Bjursell; Jan Wahlström
X-linked myotubular myopathy: a linkage study.
Clinical genetics 1990;37(5):335-40.
1990: Mårten Kyllerman; N Conradi; Jan-Eric Månsson; Alan K Percy; Lars Svennerholm
Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy.
Acta paediatrica Scandinavica 1990;79(4):448-53.
1990: Mårten Kyllerman; L Forsgren; G Sanner; Gösta Holmgren; Jan Wahlström; U Drugge
Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation.
Movement disorders : official journal of the Movement Disorder Society 1990;5(4):270-9.
1989: Anders Oldfors; Mårten Kyllerman; Jan Wahlström; Catarina Darnfors; K G Henriksson
X-linked myotubular myopathy: clinical and pathological findings in a family.
Clinical genetics 1989;36(1):5-14.
1989: Elisabeth Holme; Mårten Kyllerman; S Lindstedt
Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 1989;12 Suppl 2():280-2.
1983: Mårten Kyllerman; G Hagberg
Reduced optimality in pre- and perinatal conditions in a Swedish newborn population.
Neuropediatrics 1983;14(1):37-42.