Martin Engvall

About me
Publications
CV
Public outreach and news

Research

Research group: Inborn errors of Endocrinology and Metabolism [1], Department of Molecular Medicine and Surgery [1] https://ki.se/en/mmk/inborn-errors-of-endocrinology-and-metabolism

Articles

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: 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: 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: 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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All other publications

KI 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

Employments

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2021-2024

Degrees and Education

Degree Of Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2021
University Medical Degree, Karolinska Institutet, 1994

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