A. Melberg

Most-cited papers

1. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

   P. Luoma, A. Melberg, J. Rinne, J. Kaukonen +8 more

   2004The Lancet575 citations

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2. CSF hypocretin/orexin levels in narcolepsy and other neurological conditions

   Beth Ripley, S. Overeem, N. Fujiki, S. Nevšímalová +11 more

   2001Neurology412 citations

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3. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

   J. Winkelmann, Ling-Ju Lin, B. Schormair, B. Kornum +13 more

   2012Human Molecular Genetics257 citations Open access

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4. Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation

   E. Kors, A. Melberg, K. R. Vanmolkot, E. Kumlien +7 more

   2004Neurology127 citations

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5. Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing

   J. Klar, M. Sobol, A. Melberg, Katrin Mäbert +7 more

   2013Human Mutation111 citations

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6. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

   M. Ohlsson, C. Hedberg, B. Brådvik, C. Lindberg +6 more

   2012Brain : a journal of neurology106 citations Open access

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7. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

   G. Kollberg, M. Tulinius, A. Melberg, N. Darin +4 more

   2009Brain : a journal of neurology103 citations Open access

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8. POLG1 Mutations Associated With Progressive Encephalopathy in Childhood

   G. Kollberg, A. Moslemi, N. Darin, I. Nennesmo +6 more

   2006Journal of Neuropathology and Experimental Neurology103 citations

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9. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

   A. Moslemi, A. Oldfors, A. Melberg, E. Holme

   1996Annals of Neurology96 citations

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10. Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.

    G. Börner, M. Zeviani, V. Tiranti, F. Carrara +8 more

    2000Human Molecular Genetics90 citations Open access

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11. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

    A. Melberg, A. Oldfors, C. Blomström-Lundqvist, E. Stålberg +7 more

    199983 citations

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12. MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

    A. Melberg, Lena Hallberg, H. Kalimo, R. Raininko

    2006AJNR. American journal of neuroradiology75 citations

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13. Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia

    J. Jonasson, V. Juvonen, P. Sistonen, J. Ignatius +7 more

    2000European Journal of Human Genetics69 citations

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14. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

    A. Melberg, A. Oldfors, C. Blomström-Lundqvist, E. Stålberg +7 more

    1999Annals of Neurology61 citations

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

    Hanna Örlén, A. Melberg, R. Raininko, E. Kumlien +9 more

    2009American Journal of Medical Genetics Part B: Neuropsychiatric Genetics58 citations

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16. Autosomal dominant cerebellar ataxia deafness and narcolepsy.

    A. Melberg, J. Hetta, N. Dahl, I. Nennesmo +5 more

    1995Journal of Neurological Sciences57 citations

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17. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

    C. Hedberg, A. Melberg, A. Kuhl, D. Jenne +1 more

    2012European Journal of Human Genetics56 citations Open access

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18. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

    J. Schuster, J. Sundblom, Ann-Charlotte Thuresson, S. Hassin-Baer +6 more

    2011Neurogenetics56 citations

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19. Hypocretin deficiency in familial symptomatic narcolepsy

    A. Melberg, Beth Ripley, Ling Lin, J. Hetta +2 more

    2001Annals of Neurology53 citations

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20. MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

    J. Sundblom, A. Melberg, H. Kalimo, A. Smits +1 more

    2008American Journal of Neuroradiology49 citations Open access

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21. Analysis of LMNB1 duplications in Autosomal dominant Leukodystrophy Provides Insights into Duplication Mechanisms and allele specific Expression

    E. Giorgio, Harshvardhan Rolyan, Laura E. Kropp, A. Chakka +34 more

    2013Human Mutation46 citations Open access

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22. LMNB1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course

    Johannes Finnsson, J. Sundblom, N. Dahl, A. Melberg +1 more

    2015Annals of Neurology45 citations Open access

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23. Autosomal dominant progressive external ophthalmoplegia

    A. Moslemi, A. Melberg, E. Holme, A. Oldfors

    1999Neurology45 citations

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24. Muscle‐nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism

    A. Melberg, P. Lundberg, K. Henriksson, Y. Olsson +1 more

    1996Muscle and Nerve40 citations

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25. Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

    A. Rovio, V. Tiranti, Amy L. Bednarz, A. Suomalainen +7 more

    1999European Journal of Human Genetics38 citations Open access

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26. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations

    G. Kollberg, Monica Jansson, Åsa Pérez-Bercoff, A. Melberg +4 more

    2005European Journal of Human Genetics37 citations

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27. Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism

    A. Melberg, H. Arnell, N. Dahl, E. Stålberg +5 more

    1996Muscle and Nerve35 citations

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28. The earliest MR imaging and proton MR spectroscopy abnormalities in adult‐onset Krabbe disease

    Chen Wang, A. Melberg, J. Weis, J. Månsson +1 more

    2007Acta Neurologica Scandinavica34 citations Open access

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29. Adult‐onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

    L. Marklund, M. Melin, A. Melberg, V. Giedraitis +1 more

    2006American Journal of Medical Genetics Part B: Neuropsychiatric Genetics34 citations

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30. Recurrence of Susac Syndrome following 23 Years of Remission

    Amalia Feresiadou, Urban Eriksson, H. Larsen, R. Raininko +2 more

    2014Case Reports in Neurology32 citations Open access

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31. Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden

    O. Suhr, O. Andersen, T. Aronsson, J. Jonasson +8 more

    2009Amyloid: Journal of Protein Folding Disorders31 citations

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32. A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.

    J. Pedroso, O. G. Póvoas Barsottini, Ling Lin, A. Melberg +2 more

    2013Sleep29 citations Open access

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33. Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

    A. Melberg, C. Kretz, H. Kalimo, C. Wallgren-Pettersson +4 more

    2010Neuromuscular Disorders28 citations

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34. Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

    C. Hedberg, A. Melberg, K. Dahlbom, A. Oldfors

    2014Brain : a journal of neurology27 citations Open access

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35. Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia

    A. Melberg, E. Holme, A. Oldfors, P. Lundberg

    1998Neurology27 citations

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36. Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy.

    G. Kollberg, A. Melberg, E. Holme, A. Oldfors

    2011Neuromuscular Disorders25 citations

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37. Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?

    A. Melberg, I. Nennesmo, A. Moslemi, G. Kollberg +4 more

    2005Acta Neuropathologica23 citations

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38. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3

    A. Kuhl, A. Melberg, E. Meinl, G. Nürnberg +3 more

    2008European Journal of Human Genetics22 citations

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39. Microdialysis and electromyography of experimental muscle fatigue in healthy volunteers and patients with mitochondrial myopathy

    Hans W. Axelson, A. Melberg, G. Ronquist, H. Askmark

    2002Muscle and Nerve15 citations

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40. Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers

    J. Sundblom, E. Stålberg, Maria Österdahl, F. Rücker +7 more

    2010Muscle and Nerve13 citations

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41. 1H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms

    Johannes Finnsson, A. Melberg, R. Raininko

    2013Neuroradiology8 citations

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42. A patient with two mitochondrial DNA mutations causing PEO and LHON.

    A. Melberg, A. Moslemi, O. Palm, R. Raininko +2 more

    2009European Journal of Medical Genetics7 citations

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43. Glucose metabolism in the brain in LMNB1‐related autosomal dominant leukodystrophy

    Johannes Finnsson, M. Lubberink, I. Savitcheva, D. Fällmar +3 more

    2018Acta Neurologica Scandinavica5 citations Open access

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44. Monozygotic twins with MELAS‐like syndrome lacking ragged red fibers and lactacidaemia

    A. Melberg, P. Åkerlund, R. Raininko, H. C. Silander +5 more

    1996Acta Neurologica Scandinavica5 citations Open access

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45. Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms

    S. Berntsson, H. Gauffin, A. Melberg, A. Holtz +1 more

    2019Stereotactic and Functional Neurosurgery4 citations

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46. Does Intrathecal Baclofen Have a Place in the Treatment of Painful Spasms in Friedreich Ataxia?

    S. Berntsson, A. Holtz, A. Melberg

    2013Case Reports in Neurology4 citations Open access

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47. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression

    E. Giorgio, Harshvardhan Rolyan, Laura E. Kropp, A. Chakka +34 more

    20143 citations Open access

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48. Re‐evaluation of the dysequilibrium syndrome

    A. Melberg, Hanna Örlén, R. Raininko, Miriam Entesarian +3 more

    2011Acta Neurologica Scandinavica3 citations Open access

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49. A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease

    J. Sundblom, A. Melberg, F. Rücker, A. Smits +1 more

    2013Journal of Anesthesia2 citations

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50. Loss of control after a cup of coffee.

    A. Melberg, P. Mattsson, C. Westerberg

    1997The Lancet2 citations

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