Publications by authors named "Atle Melberg"

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Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms.
Shala G Berntsson, Helena Gauffin, Atle Melberg, Anders Holtz, Anne Marie Landtblom

Stereotact Funct Neurosurg· February 2020

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Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy.
Johannes Finnsson, Mark Lubberink, Irina Savitcheva, David Fällmar, Atle Melberg

Acta Neurol Scand· February 2019

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LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.
Johannes Finnsson, Jimmy Sundblom, Niklas Dahl, Atle Melberg, Raili Raininko

Ann Neurol· September 2015

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Recurrence of Susac Syndrome following 23 Years of Remission.
Amalia Feresiadou, Urban Eriksson, Hans-Christian Larsen, Raili Raininko, Ingela Nygren, Atle Melberg

Case Rep Neurol· May 2014

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Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Carola Hedberg, Atle Melberg, Kathe Dahlbom, Anders Oldfors

Brain· April 2014

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Does intrathecal baclofen have a place in the treatment of painful spasms in friedreich ataxia?
Shala Ghaderi Berntsson, Anders Holtz, Atle Melberg

Case Rep Neurol· December 2013

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Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Elisa Giorgio, Harshvardhan Rolyan, Laura Kropp, Anish Baswanth Chakka, Svetlana Yatsenko, Atle Melberg

Hum Mutat· August 2013

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A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.
José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Ling Lin, Atle Melberg, Acary S B Oliveira

Sleep· August 2013

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Reply to Brodehl et al.
Carola Hedberg, Atle Melberg, Angelika Kuhl, Dieter Jenne, Anders Oldfors

Eur J Hum Genet· June 2013

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Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.
Joakim Klar, Maria Sobol, Atle Melberg, Katrin Mäbert, Adam Ameur

Hum Mutat· April 2013

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A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease.
Jimmy Sundblom, Atle Melberg, Franz Rücker, Anja Smits, Gunilla Islander

J Anesth· February 2013

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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
Carola Hedberg, Atle Melberg, Angelika Kuhl, Dieter Jenne, Anders Oldfors

Eur J Hum Genet· September 2012

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Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
Monica Ohlsson, Carola Hedberg, Björn Brådvik, Christopher Lindberg, Homa Tajsharghi, Atle Melberg

Brain· June 2012

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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
Juliane Winkelmann, Ling Lin, Barbara Schormair, Birgitte R Kornum, Juliette Faraco, Atle Melberg

Hum Mol Genet· May 2012

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Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy.
Gittan Kollberg, Atle Melberg, Elisabeth Holme, Anders Oldfors

Neuromuscul Disord· February 2011

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Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.
Jens Schuster, Jimmy Sundblom, Ann-Charlotte Thuresson, Sharon Hassin-Baer, Thomas Klopstock, Atle Melberg

Neurogenetics· February 2011

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Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
Jimmy Sundblom, Erik Stålberg, Maria Osterdahl, Franz Rücker, Maria Montelius, Atle Melberg

Muscle Nerve· June 2010

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Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.
Atle Melberg, Christine Kretz, Hannu Kalimo, Carina Wallgren-Pettersson, Anne Toussaint

Neuromuscul Disord· January 2010

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Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden.
Ole B Suhr, Oluf Andersen, Thomas Aronsson, Jenni Jonasson, Hannu Kalimo, Atle Melberg

Amyloid· December 2009

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SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
Hanna Orlén, Atle Melberg, Raili Raininko, Eva Kumlien, Miriam Entesarian

Am J Med Genet B Neuropsychiatr Genet· October 2009

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Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
Gittan Kollberg, Már Tulinius, Atle Melberg, Niklas Darin, Oluf Andersen

Brain· August 2009

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A patient with two mitochondrial DNA mutations causing PEO and LHON.
Atle Melberg, Ali-Reza Moslemi, Oscar Palm, Raili Raininko, Erik Stålberg

Eur J Med Genet· April 2009

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Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.
Angelika Kuhl, Atle Melberg, Edgar Meinl, Gudrun Nürnberg, Peter Nürnberg

Eur J Hum Genet· March 2008

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Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23.
Lena Marklund, Malin Melin, Atle Melberg, Vilmantas Giedraitis, Niklas Dahl

Am J Med Genet B Neuropsychiatr Genet· September 2006

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POLG1 mutations associated with progressive encephalopathy in childhood.
Gittan Kollberg, Ali-Reza Moslemi, Niklas Darin, Inger Nennesmo, Ingibjörg Bjarnadottir, Atle Melberg

J Neuropathol Exp Neurol· August 2006

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