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: 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
Show more

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

Research

Articles

All other publications

Employments

Degrees and Education

News from KI

Events from KI