Martin Engvall

Om mig
Publikationer
CV
Populärvetenskap och samverkan

Forskningsbeskrivning

Forskargrupp: Medfödda endokrina och metabola sjukdomar [1], Institutionen
för molekylär medicin och kirurgi
[1] https://ki.se/mmk/medfodda-endokrina-och-metabola-sjukdomar

Artiklar

Article: JOURNAL OF MEDICAL GENETICS. 2023;60(1):65-73

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.

Björkman K; Vissing J; Østergaard E; Bindoff LA; de Coo IFM; Engvall M; Hikmat O; Isohanni P; Kollberg G; Lindberg C; Majamaa K; Naess K; Uusimaa J; Tulinius M; Darin N
Article: BRAIN. 2022;145(5):1624-1631

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.

Stenton SL; Tesarova M; Sheremet NL; Catarino CB; Carelli V; Ciara E; Curry K; Engvall M; Fleming LR; Freisinger P; Iwanicka-Pronicka K; Jurkiewicz E; Klopstock T; Koenig MK; Kolářová H; Kousal B; Krylova T; La Morgia C; Nosková L; Piekutowska-Abramczuk D; Russo SN; Stránecký V; Tóthová I; Träisk F; Prokisch H
Article: NEUROLOGY-GENETICS. 2021;7(2):e566

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.

Bruhn H; Samuelsson K; Schober FA; Engvall M; Lesko N; Wibom R; Nennesmo I; Calvo-Garrido J; Press R; Stranneheim H; Freyer C; Wedell A; Wredenberg A
Article: GENOME MEDICINE. 2021;13(1):40

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: FRONTIERS IN NEUROLOGY. 2021;12:652590

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).

Engvall M; Kawasaki A; Carelli V; Wibom R; Bruhn H; Lesko N; Schober FA; Wredenberg A; Wedell A; Träisk F
Article: JOURNAL OF PEDIATRICS. 2021;228:240-251.e2

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.

Naess K; Bruhn H; Stranneheim H; Freyer C; Wibom R; Mourier A; Engvall M; Nennesmo I; Lesko N; Wredenberg A; Wedell A; von Döbeln U
Article: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. 2020;7(10):2019-2025

The impact of gender, puberty, and pregnancy in patients with POLG disease.

Hikmat O; Naess K; Engvall M; Klingenberg C; Rasmussen M; Tallaksen CME; Samsonsen C; Brodtkorb E; Ostergaard E; de Coo R; Pias-Peleteiro L; Isohanni P; Uusimaa J; Darin N; Rahman S; Bindoff LA
Article: JOURNAL OF INHERITED METABOLIC DISEASE. 2020;43(4):726-736

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Hikmat O; Naess K; Engvall M; Klingenberg C; Rasmussen M; Tallaksen CM; Brodtkorb E; Ostergaard E; de Coo IFM; Pias-Peleteiro L; Isohanni P; Uusimaa J; Darin N; Rahman S; Bindoff LA
Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2020;6(2):42

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data.

Sörensen L; von Döbeln U; Åhlman H; Ohlsson A; Engvall M; Naess K; Backman-Johansson C; Nordqvist Y; Wedell A; Zetterström RH
Article: LAKARTIDNINGEN. 2020;117:FX4F

[Ataxia - a group of heterogeneous diseases].

Paucar M; Dahl N; Engvall M; Svenningsson P; Solders G
Article: NATURE COMMUNICATIONS. 2019;10(1):1396

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Olivé M; Engvall M; Ravenscroft G; Cabrera-Serrano M; Jiao H; Bortolotti CA; Pignataro M; Lambrughi M; Jiang H; Forrest ARR; Benseny-Cases N; Hofbauer S; Obinger C; Battistuzzi G; Bellei M; Borsari M; Di Rocco G; Viola HM; Hool LC; Cladera J; Lagerstedt-Robinson K; Xiang F; Wredenberg A; Miralles F; Baiges JJ; Malfatti E; Romero NB; Streichenberger N; Vial C; Claeys KG; Straathof CSM; Goris A; Freyer C; Lammens M; Bassez G; Kere J; Clemente P; Sejersen T; Udd B; Vidal N; Ferrer I; Edström L; Wedell A; Laing NG
Article: EPILEPSIA. 2018;59(8):1595-1602

Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.

Hikmat O; Naess K; Engvall M; Klingenberg C; Rasmussen M; Tallaksen CME; Brodtkorb E; Fiskerstrand T; Isohanni P; Uusimaa J; Darin N; Rahman S; Bindoff LA
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2017;101(6):965-976

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

Falkenberg KD; Braverman NE; Moser AB; Steinberg SJ; Klouwer FCC; Schlüter A; Ruiz M; Pujol A; Engvall M; Naess K; van Spronsen F; Körver-Keularts I; Rubio-Gozalbo ME; Ferdinandusse S; Wanders RJA; Waterham HR
Article: CEREBELLUM. 2016;15(5):632-635

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.

Paucar M; Engvall M; Gordon L; Tham E; Synofzik M; Svenningsson P
Article: ACTA NEUROLOGICA SCANDINAVICA. 2016;133(2):131-135

Search for Pompe disease among patients with undetermined myopathies.

Lindberg C; Anderson B; Engvall M; Hult M; Oldfors A
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(11):779-783

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

Freyer C; Stranneheim H; Naess K; Mourier A; Felser A; Maffezzini C; Lesko N; Bruhn H; Engvall M; Wibom R; Barbaro M; Hinze Y; Magnusson M; Andeer R; Zetterström RH; von Döbeln U; Wredenberg A; Wedell A
Article: JOURNAL OF NEUROMUSCULAR DISEASES. 2015;2(s1):S38

Epidemiology and Screening for Pompe Disease in Sweden.

Balcin H; Lindberg C; Lindvall B; Sundström A; Andersson B; Hult M; Engvall M; Solders G
Article: BMC GENOMICS. 2014;15(1):1090

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

Stranneheim H; Engvall M; Naess K; Lesko N; Larsson P; Dahlberg M; Andeer R; Wredenberg A; Freyer C; Barbaro M; Bruhn H; Emahazion T; Magnusson M; Wibom R; Zetterström RH; Wirta V; von Döbeln U; Wedell A
Article: BIOCHIMICA ET BIOPHYSICA ACTA: INTERNATIONAL JOURNAL OF BIOCHEMISTRY AND BIOPHYSICS. 2012;1822(7):1096-1108

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

van Kuilenburg ABP; Dobritzsch D; Meijer J; Krumpel M; Selim LA; Rashed MS; Assmann B; Meinsma R; Lohkamp B; Ito T; Abeling NGGM; Saito K; Eto K; Smitka M; Engvall M; Zhang C; Xu W; Zoetekouw L; Hennekam RCM
Article: UPSALA JOURNAL OF MEDICAL SCIENCES. 2012;117(1):28-34

Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution.

Machaczka M; Hast R; Dahlman I; Lerner R; Klimkowska M; Engvall M; Hägglund H
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2011;89(4):507-515

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

Bjursell MK; Blom HJ; Cayuela JA; Engvall ML; Lesko N; Balasubramaniam S; Brandberg G; Halldin M; Falkenberg M; Jakobs C; Smith D; Struys E; von Döbeln U; Gustafsson CM; Lundeberg J; Wedell A
Article: ACTA NEUROLOGICA SCANDINAVICA. 2005;112(4):223-227

Sarcoplasmic body myopathy--a rare hereditary myopathy with characteristic inclusions.

Engvall M; Ahlberg G; Hedberg B; Edström L; Ansved T
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Alla övriga publikationer

Thesis / dissertation: 2020

Identification of disease genes in rare neurological conditions

Engvall, Martin
Other: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2017;3(3):23

Gunnar Jungner and the Principles and Practice of Screening for Disease.

Jungner L; Jungner I; Engvall M; Döbeln UV
Meeting abstract: NEUROMUSCULAR DISORDERS. 2014;24(9-10):893

Epidemiology and screening of Pompe disease in Sweden

Balcin H; Lindberg C; Sundstrom A; Hult M; Engvall M; Solders G
Meeting abstract: NEUROMUSCULAR DISORDERS. 2006;16(9-10):690

A sarcoplasmic body myopathy

Hedberg B; Stibler H; Xiang F; Ahlberg G; Engvall M; Ansved T; Edstrom L

Anställningar

Anknuten till Forskning, Molekylär medicin och kirurgi, Karolinska Institutet, 2021-2024

Examina och utbildning

Medicine Doktorsexamen, Institutionen för molekylär medicin och kirurgi, Karolinska Institutet, 2021
Läkarexamen, Karolinska Institutet, 1994

Forskningsbeskrivning

Artiklar

Alla övriga publikationer

Anställningar

Examina och utbildning

Nyheter från KI

Kalenderhändelser från KI