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Items: 1 to 20 of 100

1.

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.

Jennions E, Hedberg-Oldfors C, Berglund AK, Kollberg G, Törnhage CJ, Eklund EA, Oldfors A, Verloo P, Vanlander AV, Meirleir L, Seneca S, Sterky FH, Darin N.

J Inherit Metab Dis. 2019 Jul 5. doi: 10.1002/jimd.12149. [Epub ahead of print]

PMID:
31276219
2.

Structural anomaly in the reticular formation in narcolepsy type 1, suggesting lower levels of neuromelanin.

Drissi NM, Warntjes M, Wessén A, Szakacs A, Darin N, Hallböök T, Landtblom AM, Gauffin H, Engström M.

Neuroimage Clin. 2019 May 29;23:101875. doi: 10.1016/j.nicl.2019.101875. [Epub ahead of print]

3.

Research activity and capability in the European reference network MetabERN.

Heard JM, Bellettato C, van Lingen C, Scarpa M; MetabERN collaboration group.

Orphanet J Rare Dis. 2019 May 29;14(1):119. doi: 10.1186/s13023-019-1091-8.

4.

A population-based and case-controlled study of children and adolescents with narcolepsy: Health-related quality of life, adaptive behavior and parental stress.

Szakács A, Chaplin JE, Tideman P, Strömberg U, Nilsson J, Darin N, Hallböök T.

Eur J Paediatr Neurol. 2019 Mar;23(2):288-295. doi: 10.1016/j.ejpn.2019.01.004. Epub 2019 Jan 19.

PMID:
30711365
5.

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.

Michael E, Hedberg-Oldfors C, Wilmar P, Visuttijai K, Oldfors A, Darin N.

Neuromuscul Disord. 2019 Feb;29(2):108-113. doi: 10.1016/j.nmd.2018.12.009. Epub 2018 Dec 20.

PMID:
30642739
6.

Unexpected Fat Distribution in Adolescents With Narcolepsy.

Morales Drissi N, Romu T, Landtblom AM, Szakács A, Hallböök T, Darin N, Borga M, Leinhard OD, Engström M.

Front Endocrinol (Lausanne). 2018 Dec 6;9:728. doi: 10.3389/fendo.2018.00728. eCollection 2018.

7.

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.

Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW; Ataluren Phase 2b Study Group.

Neurology. 2018 Sep 25;91(13):e1215-e1219. doi: 10.1212/WNL.0000000000006245. Epub 2018 Aug 22.

PMID:
30135256
8.

Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients.

Sofou K, Shahim P, Tulinius M, Blennow K, Zetterberg H, Mattsson N, Darin N.

Mitochondrion. 2019 May;46:228-235. doi: 10.1016/j.mito.2018.07.002. Epub 2018 Jul 9.

PMID:
30004022
9.

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.

Epilepsia. 2018 Aug;59(8):1595-1602. doi: 10.1111/epi.14459. Epub 2018 Jun 19.

PMID:
29920680
10.

γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1.

Darin N, Leckström K, Sikora P, Lindgren J, Almén G, Asin-Cayuela J.

Eur J Hum Genet. 2018 Jun;26(6):808-817. doi: 10.1038/s41431-018-0122-6. Epub 2018 Feb 26.

11.

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group.

N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.

12.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

13.

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, Lönnqvist T, Bindoff LA, Tulinius M, Darin N.

J Med Genet. 2018 Jan;55(1):21-27. doi: 10.1136/jmedgenet-2017-104891. Epub 2017 Nov 3.

PMID:
29101127
14.

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group.

N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.

15.

Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease.

Westerlund E, Marelsson SE, Ehinger JK, Sjövall F, Morota S, Åsander Frostner E, Oldfors A, Darin N, Lundgren J, Hansson MJ, Fellman V, Elmér E.

Pediatr Res. 2018 Feb;83(2):455-465. doi: 10.1038/pr.2017.250. Epub 2017 Nov 15.

PMID:
28981487
16.

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

Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B; Thiamine Deficiency Study Group.

Ann Neurol. 2017 Sep;82(3):317-330. doi: 10.1002/ana.24998. Epub 2017 Aug 30.

PMID:
28856750
17.

The development of a health-related quality-of-life instrument for young people with narcolepsy: NARQoL-21.

Chaplin JE, Szakács A, Hallböök T, Darin N.

Health Qual Life Outcomes. 2017 Jul 4;15(1):135. doi: 10.1186/s12955-017-0707-8.

18.

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

Hedberg-Oldfors C, Darin N, Oldfors A.

Neuromuscul Disord. 2017 Aug;27(8):771-776. doi: 10.1016/j.nmd.2017.05.005. Epub 2017 May 8. Review.

PMID:
28624465
19.

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

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.

Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.

20.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. No abstract available.

PMID:
28546572

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