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1

Molecular genetic and clinical aspects of mitochondrial disorders in childhood

Ali-Reza Moslemi, Niklas Darin

Journal:

Year:

2007

Language:

english

File:

PDF, 514 KB

english, 2007

2

Coenzyme Q10 and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits

Vanna Geromel, Niklas Darin, Dominique Chrétien, Paule Bénit, Pascale DeLonlay, Agnès Rötig, Arnold Munnich, Pierre Rustin

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 473 KB

english, 2002

3

EXOSC3mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Eggens, Veerle RC, Barth, Peter G, Niermeijer, Jikke-Mien F, Berg, Jonathan N, Darin, Niklas, Dixit, Abhijit, Fluss, Joel, Foulds, Nicola, Fowler, Darren, Hortobágyi, Tibor, Jacques, Thomas, King, Mar

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 373 KB

english, 2014

4

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Tarailo-Graovac, Maja, Drögemöller, Britt I., Wasserman, Wyeth W., Ross, Colin J. D., van den Ouweland, Ans M. W., Darin, Niklas, Kollberg, Gittan, van Karnebeek, Clara D. M., Blomqvist, Maria

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1002 KB

english, 2017

5

Psychiatric Comorbidity and Cognitive Profile in Children with Narcolepsy with or without Association to the H1N1 Influenza Vaccination

Szakács, Attila, Hallböök, Tove, Tideman, Pontus, Darin, Niklas, Wentz, Elisabet

Journal:

Year:

2015

Language:

english

File:

PDF, 403 KB

english, 2015

6

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Wijnen, Iris G. M., Veenstra-Knol, Hermine E., Vansenne, Fleur, Gerkes, Erica H., de Koning, Tom, Vos, Yvonne J., Tijssen, Marina A. J., Sival, Deborah, Darin, Niklas, Vanhoutte, Els K., Oosterloo, Ma

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 657 KB

2020

7

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

Hanna Örlén, Atle Melberg, Raili Raininko, Eva Kumlien, Miriam Entesarian, Per Söderberg, Magnus Påhlman, Niklas Darin, Mårten Kyllerman, Eva Holmberg, Henry Engler, Urban Eriksson, Niklas Dahl

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 289 KB

english, 2009

8

The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities

Niklas Darin, Anders Oldfors, Ali-Reza Moslemi, Elisabeth Holme, Már Tulinius

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 141 KB

english, 2001

9

Mitochondrial activities in human cultured skin fibroblasts contaminated byMycoplasma hyorhinis

Niklas Darin, Norman Kadhom, Jean-Jacques Brière, Dominique Chretien, Cécile M Bébéar, Agnès Rötig, Arnold Munnich, Pierre Rustin

Journal:

BMC Biochemistry

Year:

2003

Language:

english

File:

PDF, 601 KB

english, 2003

10

Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy

Monica Jansson, Niklas Darin, Mårten Kyllerman, Tommy Martinsson, Jan Wahlström, A. Oldfors

Journal:

Acta Neuropathologica

Year:

2000

Language:

english

File:

PDF, 477 KB

english, 2000

11

Induced shift in myosin heavy chain expression in myosin myopathy by endurance training

Homa Tajsharghi, Katharina Stibrant Sunnerhagen, Niklas Darin, Mårten Kyllerman, Anders Oldfors

Journal:

Journal of Neurology

Year:

2004

Language:

english

File:

PDF, 2.04 MB

english, 2004

12

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Ε1α gene

Már Tulinius, Niklas Darin, Lars-Martin Wiklund, Eva Holmberg, Jan Erik Eriksson, Willy Lissens, Linda De Meirleir, Elisabeth Holme

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 416 KB

english, 2005

13

Changes in prevalence, aetiology, age at detection, and associated disabilities in preschool children with hearing impairment born in Göteborg

Niklas Darin, Per Hanner

Journal:

Developmental Medicine & Child Neurology

Year:

1997

File:

PDF, 849 KB

1997

14

Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)

Tajsharghi, Homa, Darin, Niklas, Rekabdar, Elham, Kyllerman, Mårten, Wahlström, Jan, Martinsson, Tommy, Oldfors, Anders

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 88 KB

english, 2005

15

Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria

Niklas Darin, Mårten Kyllerman, Anna-Lena Hård, Claes Nordborg, Jan-Eric Månsson

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 114 KB

english, 2009

16

Phenotypic and genotypic variability in Alpers syndrome

Kalliopi Sofou, Ali-Reza Moslemi, Gittan Kollberg, Ingibjörg Bjarnadóttir, Anders Oldfors, Inger Nennesmo, Elisabeth Holme, Már Tulinius, Niklas Darin

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 764 KB

english, 2012

17

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Anu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, Anna H Hakonen, Ksenia Sevastianova, Mari Korpela, Pirjo Isohanni, Sanna K Marjavaara, Tiina Tyni, Sari Kiuru-Enari, Helena Pihko, Niklas Darin, Katr

Journal:

The Lancet Neurology

Year:

2011

Language:

english

File:

PDF, 298 KB

english, 2011

18

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy

Eva Arkblad, Már Tulinius, Anna-Karin Kroksmark, Mirja Henricsson, Niklas Darin

Journal:

Acta Paediatrica

Year:

2009

Language:

english

File:

PDF, 251 KB

english, 2009

19

Cortisol secretion in relation to body fat distribution in obese premenopausal women

Per Mårin, Niklas Darin, Teiko Amemiya, Björn Andersson, Sverker Jern, Per Björntorp

Journal:

Year:

1992

Language:

english

File:

PDF, 570 KB

english, 1992

20

Ophthalmologic findings in 40 patients with mitochondrial diseases with known DNA mutation

Marita C. Andersson Gronlund, Antovan Seyedi-Honovar, Eva Rudholm, Niklas Darin, Mar Tulinius, Susann Andersson

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2007

Language:

english

File:

PDF, 47 KB

english, 2007

21

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion

Már Tulinius, Ali-Reza Moslemi, Niklas Darin, Elisabeth Holme, Anders Oldfors

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 346 KB

english, 2005

22

Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)

Homa Tajsharghi, Niklas Darin, Mar Tulinius, Anders Oldfors

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 183 KB

english, 2005

23

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

Eva L. Arkblad, Niklas Darin, Kerstin Berg, Eva Kimber, Göran Brandberg, Christopher Lindberg, Eva Holmberg, Mar Tulinius, Margareta Nordling

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 747 KB

english, 2006

24

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

Gittan Kollberg, Niklas Darin, Karin Benan, Ali-Reza Moslemi, Sigurd Lindal, Már Tulinius, Anders Oldfors, Elisabeth Holme

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 696 KB

english, 2009

25

3-Methylcrotonyl-CoA Carboxylase Deficiency and Severe Multiple Sclerosis

Niklas Darin, Oluf Andersen, Lars-Martin Wiklund, Daniel Holmgren, Elisabeth Holme

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 175 KB

english, 2007

26

The in-depth evaluation of suspected mitochondrial disease

Richard H. Haas, Sumit Parikh, Marni J. Falk, Russell P. Saneto, Nicole I. Wolf, Niklas Darin, Lee-Jun Wong, Bruce H. Cohen, Robert K. Naviaux

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 719 KB

english, 2008

27

A survey of neuromuscular disorders in children in western Sweden

Már Tulinius, Anna-Karin Kroksmark, Niklas Darin

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

28

Multiple congenital contractures: Birth prevalence, etiology, and outcome

Niklas Darin, Eva Kimber, Anna-Karin Kroksmark, Már Tulinius

Journal:

The Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 93 KB

english, 2002

29

Dominant Hereditary Inclusion-Body Myopathy Gene (IBM3) Maps to Chromosome Region 17p13.1

Tommy Martinsson, Niklas Darin, Mårten Kyllerman, Anders Oldfors, Birgitta Hallberg, Jan Wahlström

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 144 KB

english, 1999

30

MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement

Sofou, Kalliopi, Steneryd, Karin, Wiklund, Lars-Martin, Tulinius, Már, Darin, Niklas

Journal:

Year:

2013

Language:

english

File:

PDF, 826 KB

english, 2013

31

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations

Hedberg, Carola, Oldfors, Anders, Darin, Niklas

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 907 KB

english, 2014

32

Cerebrospinal fluid biomarkers in neurological diseases in children

Shahim, Pashtun, Månsson, Jan-Eric, Darin, Niklas, Zetterberg, Henrik, Mattsson, Niklas

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 330 KB

english, 2013

33

Cerebrospinal Fluid Brain Injury Biomarkers in Children: A Multicenter Study

Shahim, Pashtun, Darin, Niklas, Andreasson, Ulf, Blennow, Kaj, Jennions, Elizabeth, Lundgren, Johan, Månsson, Jan-Eric, Naess, Karin, Törnhage, Carl-Johan, Zetterberg, Henrik, Mattsson, Niklas

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 2.58 MB

english, 2013

34

Genetic study of Pandemrix-associated narcolepsy

Bomfim, Izaura Lima, Fink, Katarina, Lamb, Favelle, Darin, Niklas, Szakacs, Attila, Hallböök, Tove, Piehl, Fredrik, Dahlström, Lisen Arnheim, Kockum, Ingrid, Olsson, Tomas

Journal:

Journal of Neuroimmunology

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

35

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1

Björkman, Kristoffer, Sofou, Kalliopi, Darin, Niklas, Holme, Elisabeth, Kollberg, Gittan, Asin-Cayuela, Jorge, Holmberg Dahle, Karin M., Oldfors, Anders, Moslemi, Ali-Reza, Tulinius, Már

Journal:

Year:

2015

Language:

english

File:

PDF, 1.13 MB

english, 2015

36

Epidemiology of lysosomal storage diseases in Sweden

Hult, Malin, Darin, Niklas, von Döbeln, Ulrika, Månsson, Jan-Eric

Journal:

Acta Paediatrica

Year:

2014

Language:

english

File:

PDF, 292 KB

english, 2014

37

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy

Roos, Sara, Darin, Niklas, Kollberg, Gittan, Andersson Grönlund, Marita, Tulinius, Mar, Holme, Elisabeth, Moslemi, Ali-Reza, Oldfors, Anders

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 507 KB

english, 2013

38

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

Wortmann, Saskia, van Hasselt, Peter, Barić, Ivo, Burlina, Alberto, Darin, Niklas, Hörster, Friederike, Coker, Mahmut, Kalkan Ucar, Sema, Krumina, Zita, Naess, Karin, Ngu, Lock, Pronicka, Ewa, Riordan

Journal:

Neuropediatrics

Year:

2015

Language:

english

File:

PDF, 364 KB

english, 2015

39

Whole exome sequencing reveals mutations in NARS2 and PARS2 , encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

Sofou, Kalliopi, Kollberg, Gittan, Holmström, Maria, Dávila, Marcela, Darin, Niklas, Gustafsson, Claes M., Holme, Elisabeth, Oldfors, Anders, Tulinius, Már, Asin-Cayuela, Jorge

Journal:

Molecular Genetics & Genomic Medicine

Year:

2015

Language:

english

File:

PDF, 2.27 MB

english, 2015

40

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

Ortigoza-Escobar, Juan Darío, Molero-Luis, Marta, Arias, Angela, Oyarzabal, Alfonso, Darín, Niklas, Serrano, Mercedes, Garcia-Cazorla, Angels, Tondo, Mireia, Hernández, María, Garcia-Villoria, Judit,

Journal:

Year:

2016

Language:

english

File:

PDF, 299 KB

english, 2016

41

Autoantibody targets in vaccine-associated narcolepsy

Häggmark-Månberg, Anna, Zandian, Arash, Forsström, Björn, Khademi, Mohsen, Lima Bomfim, Izaura, Hellström, Cecilia, Arnheim-Dahlström, Lisen, Hallböök, Tove, Darin, Niklas, Lundberg, Ingrid E., Uhlén,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

42

POLG1 Mutations Associated With Progressive Encephalopathy in Childhood

Kollberg, Gittan, Moslemi, Ali-Reza, Darin, Niklas, Nennesmo, Inger, Bjarnadottir, Ingibjörg, Uvebrant, Paul, Holme, Elisabeth, Melberg, Atle, Tulinius, Már, Oldfors, Anders

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2006

Language:

english

File:

PDF, 713 KB

english, 2006

43

Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up

Åkebrand, Rebecka, Andersson, Susann, Seyedi Honarvar, Antovan K., Sofou, Kalliopi, Darin, Niklas, Tulinius, Mar, Grönlund, Marita Andersson

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2016

Language:

english

File:

PDF, 370 KB

english, 2016

44

Ophthalmologic involvement in Leigh syndrome

Andersson Grönlund, Marita, Andersson, Susann, Åkebrand, Rebecka, Seyedi Honarvar, Antovan K., Sofou, Kalliopi, Darin, Niklas, Tulinius, Mar

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2016

Language:

english

File:

PDF, 98 KB

english, 2016

45

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency

Hedberg-Oldfors, Carola, Darin, Niklas, Olsson Engman, Mia, Orfanos, Zacharias, Thomsen, Christer, van der Ven, Peter F M, Oldfors, Anders

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 4.03 MB

english, 2016

46

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

Darin, Niklas, Reid, Emma, Prunetti, Laurence, Samuelsson, Lena, Husain, Ralf A., Wilson, Matthew, El Yacoubi, Basma, Footitt, Emma, Chong, W.K., Wilson, Louise C., Prunty, Helen, Pope, Simon, Heales,

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.26 MB

english, 2016

47

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes

Sofou, Kalliopi, Dahlin, Maria, Hallböök, Tove, Lindefeldt, Marie, Viggedal, Gerd, Darin, Niklas

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 656 KB

english, 2017

48

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Rice, Gillian, Kitabayashi, Naoki, Barth, Magalie, Briggs, Tracy, Burton, Annabel, Carpanelli, Maria, Cerisola, Alfredo, Colson, Cindy, Dale, Russell, Danti, Federica, Darin, Niklas, De Azua, Begoña,

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 423 KB

english, 2017

49

Muscle pathology in Vici syndrome–A case study with a novel mutation in EPG5 and a summary of the literature

Hedberg-Oldfors, Carola, Darin, Niklas, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 4.36 MB

english, 2017

50

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Ortigoza-Escobar, Juan Darío, Alfadhel, Majid, Molero-Luis, Marta, Darin, Niklas, Spiegel, Ronen, de Coo, Irenaeus F, Gerards, Mike, Taylor, Robert W, Artuch, Rafael, Nashabat, Marwan, Rodríguez-Pombo

Journal:

Annals of Neurology

Year:

2017

Language:

english

File:

PDF, 2.75 MB

english, 2017

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