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European Journal of Medical Genetics
|
November 19, 2008
A patient with two mitochondrial DNA mutations causing PEO and LHON
Atle Melberg, Ali-Reza Moslemi, Oscar Palm, et al.
Case Reports in Neurology
|
July 3, 2014
Recurrence of Susac Syndrome following 23 Years of Remission
Amalia Feresiadou, Urban Eriksson, Hans-Christian Larsen, et al.
Acta Neurologica Scandinavica
|
September 8, 2018
Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy
Johannes Finnsson, Mark Lubberink, Irina Savitcheva, et al.
European Journal of Human Genetics : EJHG
|
January 17, 2008
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3
Angelika Kuhl, Atle Melberg, Edgar Meinl, et al.
Brain : a Journal of Neurology
|
July 2, 2009
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy
Gittan Kollberg, Már Tulinius, Atle Melberg, et al.
Acta Neuropathologica
|
June 28, 2005
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
Atle Melberg, Inger Nennesmo, Ali-Reza Moslemi, et al.
Sleep
|
August 2, 2013
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, et al.
Neuromuscular Disorders : NMD
|
November 26, 2009
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
Atle Melberg, Christine Kretz, Hannu Kalimo, et al.
European Journal of Human Genetics : EJHG
|
February 11, 2005
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations
Gittan Kollberg, Monica Jansson, Asa Pérez-Bercoff, et al.
Brain : a Journal of Neurology
|
May 12, 2012
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
Monica Ohlsson, Carola Hedberg, Björn Brådvik, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 29) with videos related to
Sort By:
Page
of 3
European Journal of Medical Genetics
|
November 19, 2008
A patient with two mitochondrial DNA mutations causing PEO and LHON
Atle Melberg, Ali-Reza Moslemi, Oscar Palm, et al.
Case Reports in Neurology
|
July 3, 2014
Recurrence of Susac Syndrome following 23 Years of Remission
Amalia Feresiadou, Urban Eriksson, Hans-Christian Larsen, et al.
Acta Neurologica Scandinavica
|
September 8, 2018
Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy
Johannes Finnsson, Mark Lubberink, Irina Savitcheva, et al.
European Journal of Human Genetics : EJHG
|
January 17, 2008
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3
Angelika Kuhl, Atle Melberg, Edgar Meinl, et al.
Brain : a Journal of Neurology
|
July 2, 2009
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy
Gittan Kollberg, Már Tulinius, Atle Melberg, et al.
Acta Neuropathologica
|
June 28, 2005
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
Atle Melberg, Inger Nennesmo, Ali-Reza Moslemi, et al.
Sleep
|
August 2, 2013
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, et al.
Neuromuscular Disorders : NMD
|
November 26, 2009
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
Atle Melberg, Christine Kretz, Hannu Kalimo, et al.
European Journal of Human Genetics : EJHG
|
February 11, 2005
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations
Gittan Kollberg, Monica Jansson, Asa Pérez-Bercoff, et al.
Brain : a Journal of Neurology
|
May 12, 2012
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
Monica Ohlsson, Carola Hedberg, Björn Brådvik, et al.
Page
of 3