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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Nature genetics, 2012-04, Vol.44 (4), p.450-455

2012

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Atypical phenotypes in titinopathies explained by second titin mutations

Annals of neurology, 2014-02, Vol.75 (2), p.230-240

2014

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Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Acta neuropathologica communications, 2016-02, Vol.4 (10), p.9-9, Article 9

2016

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Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Neuromuscular disorders : NMD, 2011-08, Vol.21 (8), p.551-555

2011

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The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy

Journal of neurology, neurosurgery and psychiatry, 2010-08, Vol.81 (8), p.834-839

2010

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New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

Neurology, 2012-11, Vol.79 (22), p.2194

2012

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Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy—a postal survey

Muscle & nerve, 2018-06, Vol.57 (6), p.1014-1017

2018

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Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

Neurology, 2017-04, Vol.88 (16), p.1520

2017

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Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

Neuromuscular disorders : NMD, 2015-11, Vol.25 (11), p.835-842

2015

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CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

Journal of neurology, neurosurgery and psychiatry, 2017-03, Vol.88 (3), p.272

2017

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Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis

Journal of the neurological sciences, 2015-08, Vol.355 (1), p.143-146

2015

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Discontinuation of carbamazepine due to concerns of long-term consequences of enzyme induction

Epilepsia open, 2018-09, Vol.3 (3), p.340-347

2018

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Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus

Neuromuscular disorders : NMD, 2011-05, Vol.21 (5), p.338-344

2011

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Critical neural targets for (the level of) human consciousness: Arousal arrest and unconsciousness after sumatriptan administration

Brain injury, 2016-01, Vol.30 (13-14), p.1731-1736

2016

Volltextzugriff (PDF)

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

Frontiers in neurology, 2016-05, Vol.7, p.82-82

2016

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PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

Neurology. Genetics, 2015-06, Vol.1 (1), p.e7-e7

2015

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Critical neural targets for (the level of) human consciousness: Arousal arrest and unconsciousness after sumatriptan administration

Brain Injury, 2016, Vol.30 (13-14), p.1731-1736

2016

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The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients

Duodecim (Helsinki, Finland : 1961), 2013, Vol.129 (19), p.2011

2013

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Genetic variation in the hTAS2R38 taste receptor and food consumption among Finnish adults

Genes & nutrition, 2014-11, Vol.9 (6), p.433-433, Article 433

2014

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Fuzzy Liquid Analysis by an Array of Nonspecifically Interacting Reagents: The Taste of Fluorescence

Journal of the American Chemical Society, 2013-05, Vol.135 (20), p.7422-7425

2013

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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Atypical phenotypes in titinopathies explained by second titin mutations

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy—a postal survey

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis

Discontinuation of carbamazepine due to concerns of long-term consequences of enzyme induction

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus

Critical neural targets for (the level of) human consciousness: Arousal arrest and unconsciousness after sumatriptan administration

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

Critical neural targets for (the level of) human consciousness: Arousal arrest and unconsciousness after sumatriptan administration

The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients

Genetic variation in the hTAS2R38 taste receptor and food consumption among Finnish adults

Fuzzy Liquid Analysis by an Array of Nonspecifically Interacting Reagents: The Taste of Fluorescence

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