LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course
Finnsson, Johannes, Sundblom, Jimmy, Dahl, Niklas, Melberg, Atle, Raininko, Raili
Published in Annals of neurology (01.09.2015)
Published in Annals of neurology (01.09.2015)
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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
WINKELMANN, Juliane, LING LIN, POLI, Francesca, GRUBERT, Fabian, WIELAND, Thomas, GRAF, Elisabeth, HALLMAYER, Joachim, STROM, Tim M, MIGNOT, Emmanuel, SCHORMAIR, Barbara, KORNUM, Birgitte R, FARACO, Juliette, PLAZZI, Giuseppe, MELBERG, Atle, CORNELIO, Ferdinando, URBAN, Alexander E, PIZZA, Fabio
Published in Human molecular genetics (15.05.2012)
Published in Human molecular genetics (15.05.2012)
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Journal Article
Recurrence of Susac Syndrome following 23 Years of Remission
Feresiadou, Amalia, Eriksson, Urban, Larsen, Hans-Christian, Raininko, Raili, Nygren, Ingela, Melberg, Atle
Published in Case reports in neurology (21.05.2014)
Published in Case reports in neurology (21.05.2014)
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A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease
Sundblom, Jimmy, Melberg, Atle, Rücker, Franz, Smits, Anja, Islander, Gunilla
Published in Journal of anesthesia (01.02.2013)
Published in Journal of anesthesia (01.02.2013)
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Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden
Suhr, Ole B., Andersen, Oluf, Aronsson, Thomas, Jonasson, Jenni, Kalimo, Hannu, Lundahl, Christer, Lundgren, Hans-Eric, Melberg, Atle, Nyberg, Johan, Olsson, Malin, Sandberg, Arne, Westermark, Per
Published in Amyloid (01.12.2009)
Published in Amyloid (01.12.2009)
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Does Intrathecal Baclofen Have a Place in the Treatment of Painful Spasms in Friedreich Ataxia
Ghaderi Berntsson, Shala, Holtz, Anders, Melberg, Atle
Published in Case reports in neurology (01.01.2013)
Published in Case reports in neurology (01.01.2013)
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Journal Article
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
HEDBERG, Carola, MELBERG, Atle, KUHL, Angelika, JENNE, Dieter, OLDFORS, Anders
Published in European journal of human genetics : EJHG (01.09.2012)
Published in European journal of human genetics : EJHG (01.09.2012)
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Journal Article
L MNB 1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course
Finnsson, Johannes, Sundblom, Jimmy, Dahl, Niklas, Melberg, Atle, Raininko, Raili
Published in Annals of neurology (01.09.2015)
Published in Annals of neurology (01.09.2015)
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Journal Article
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
OHLSSON, Monica, HEDBERG, Carola, BRADVIK, Björn, LINDBERG, Christopher, TAJSHARGHI, Homa, DANIELSSON, Olof, MELBERG, Atle, UDD, Bjarne, MARTINSSON, Tommy, OLDFORS, Anders
Published in Brain (London, England : 1878) (2012)
Published in Brain (London, England : 1878) (2012)
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Journal Article
Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing
Klar, Joakim, Sobol, Maria, Melberg, Atle, Mäbert, Katrin, Ameur, Adam, Johansson, Anna C.V., Feuk, Lars, Entesarian, Miriam, Örlén, Hanna, Casar-Borota, Olivera, Dahl, Niklas
Published in Human mutation (01.04.2013)
Published in Human mutation (01.04.2013)
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Journal Article
Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study
Luoma, Petri, Melberg, Atle, Rinne, Juha O, Kaukonen, Jyrki A, Nupponen, Nina N, Chalmers, Richard M, Oldfors, Anders, Rautakorpi, Ilkka, Peltonen, Leena, Majamaa, Kari, Somer, Hannu, Suomalainen, Anu
Published in The Lancet (British edition) (04.09.2004)
Published in The Lancet (British edition) (04.09.2004)
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