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

Journal article: JCI INSIGHT. 2024;9(20):e178645
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease
Correia SP; Moedas MF; Taylor LS; Naess K; Lim AZ; McFarland R; Kazior Z; Rumyantseva A; Wibom R; Engvall M; Bruhn H; Lesko N; Vegvari A; Kall L; Trost M; Alston CL; Freyer C; Taylor RW; Wedell A; Wredenberg A
Journal article: ACTA OPHTHALMOLOGICA. 2024;102(S279)
The ganglion cell complex thickness and visual function in leber hereditary optic neuropathy
Hedström J; Nilsson M; Engvall M; Venkataraman A
Article: NEUROLOGY: GENETICS. 2023;9(6):e200100
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.
Ben-Shabat I; Kvarnung M; Sperker W; Bruhn H; Wredenberg A; Wibom R; Nennesmo I; Engvall M; Paucar M
Article: JCI INSIGHT. 2023;8(17):e167656
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations
Zhang J; Koolmeister C; Han J; Filograna R; Hanke L; Adori M; Sheward DJ; Teifel S; Gopalakrishna S; Shao Q; Liu Y; Zhu K; Harris RA; Mcinerney G; Murrell B; Aoun M; Baeckdahl L; Holmdahl R; Pekalski M; Wedell A; Engvall M; Wredenberg A; Hedestam GBK; Dopico XC; Rorbach J
Article: NEUROLOGY: GENETICS. 2023;9(4):e200081
Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier Case Report and Review of the Literature
Sennfalt S; Aspegren O; Engvall M; Granberg T; Piehl F
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
Bjorkman K; Vissing J; ostergaard 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 C; Carelli V; Ciara E; Curry K; Engvall M; Fleming LR; Freisinger P; Iwanicka-Pronicka K; Jurkiewicz E; Klopstock T; Koenig MK; Kolarova H; Kousal B; Krylova T; La Morgia C; Noskova L; Piekutowska-Abramczuk D; Russo SN; Stranecky V; Tothova I; Traisk 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; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom 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; Traisk 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 Dobeln 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 CME; 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
Sorensen L; von Dobeln U; Ahlman H; Ohlsson A; Engvall M; Naess K; Backman-Johansson C; Nordqvist Y; Wedell A; Zetterstrom 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
Olive 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; Hoo LC; Cladera J; Lagerstedt-Robinson K; Xiang F; Wredenberg A; Miralles F; Jose Baiges J; Malfatti E; Romero NB; Streichenberger N; Via 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; Edstrom 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; Schluter A; Ruiz M; Pujol A; Engvall M; Naess K; van Spronsen F; Korver-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; Zetterstrom RH; von Dobeln 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; Zetterstrom RH; Wirta V; von Dobeln U; Wedell A
Article: BIOCHIMICA ET BIOPHYSICA ACTA: INTERNATIONAL JOURNAL OF BIOCHEMISTRY AND BIOPHYSICS. 2012;1822(7):1096-1108
β-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; Hagglund 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 Dobeln 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; Åhlberg G; Hedberg B; Edström L; Ansved T
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All other publications

Editorial comment: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2024;460:123020
Novel findings in a Swedish primary familial brain calcification cohort
Sennfalt S; Gustavsson P; Malmgren H; Gilland E; Almqvist H; Oscarson M; Engvall M; Bjorkhem I; Nilsson D; Lagerstedt-Robinson K; Svenningsson P; Paucar M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with neuromuscular disorders
Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir H; Arnardottir S; Naess K; Nennesemo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
Preprint: MEDRXIV. 2023
Spinocerebellar ataxia type 4 is caused by a GGC expansion in theZFHX3gene and is associated with prominent dysautonomia and motor neuron signs
Paucar M; Nilsson D; Engvall M; Laffita-Mesa J; Söderhäll C; Skorpil M; Halldin C; Fazio P; Lagerstedt-Robinson K; Solders G; Angeria M; Varrone A; Risling M; Jiao H; Nennesmo I; Wedell A; Svenningsson P
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:590-591
Implementation of genomic medicine in Stockholm healthcare region - update on first 10,000 samples
Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Lesko N; Nilsson D; Vonlanthen S; Eisfeldt J; Kvarnung M; Engvall M; Malmgren H; Anderlid B-M; Rasi C; Jemt A; Marits P; Soller MJ; Nordgren A; Wirta V; Wedell A
Preprint: MEDRXIV. 2021
Antigen receptor stimulation drives selection against pathogenic mtDNA variants that dysregulate lymphocyte responses
Zhang J; Koolmeister C; Han J; Filograna R; Hanke L; Àdori M; Sheward D; Teifel S; Liu Y; Harris R; Murrell B; Mcinerney G; Aoun M; Bäckdahl L; Holmdahl R; Pekalski M; Wedell A; Engvall M; Wredenberg A; Karlsson Hedestam G; Dopico XC; Rorbach J
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, 2024-2027

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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