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Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Human molecular genetics, 2013-08, Vol.22 (15), p.2975-2983

2013

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Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

Acta neurologica Scandinavica, 2016-05, Vol.133 (5), p.361-366

2016

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Metabolic determination of cell fate through selective inheritance of mitochondria

Nature cell biology, 2022-02, Vol.24 (2), p.148-154

2022

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Somatic Progenitor Cell Vulnerability to Mitochondrial DNA Mutagenesis Underlies Progeroid Phenotypes in Polg Mutator Mice

Cell metabolism, 2012-01, Vol.15 (1), p.100-109

2012

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Mutant Mitochondrial Helicase Twinkle Causes Multiple mtDNA Deletions and a Late-Onset Mitochondrial Disease in Mice

Proceedings of the National Academy of Sciences - PNAS, 2005-12, Vol.102 (49), p.17687-17692

2005

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Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

Human molecular genetics, 2012-01, Vol.21 (1), p.66-75

2012

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Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small‐fiber and mixed neuropathy

Muscle & nerve, 2019-03, Vol.59 (3), p.354-357

2019

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Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

Human molecular genetics, 2004-12, Vol.13 (24), p.3219-3227

2004

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P.336 - MNDcap gene panel as a diagnostic tool in motor neuron disorders

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S197-S198

2017

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MNDcap gene panel as a diagnostic tool in motor neuron disorders

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S197-S198

2017

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Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic small fiber and mixed neuropathy

MOLECULAR GENETICS AND METABOLISM, 2019-02, Vol.126 (2), p.S72-S73

2019

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MYOFIBRILLAR AND DISTAL MYOPATHIES

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S108

2018

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MYOFIBRILLAR AND DISTAL MYOPATHIES: P.254Pyroxd1 mutations cause recessive adult-onset slowly progressive LGMD

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S108-S108

2018

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Capsid-modified adenoviral vectors for improved muscle-directed gene therapy

Human gene therapy, 2012-10, Vol.23 (10), p.1065-1070

2012

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A Locus for Autosomal Dominant Keratoconus: Linkage to 16q22.3-q23.1 in Finnish Families

Investigative ophthalmology & visual science, 2002-10, Vol.43 (10), p.3160-3164

2002

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A new genetic locus for X linked progressive cone-rod dystrophy

Journal of medical genetics, 2003-06, Vol.40 (6), p.418-423

2003

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Genetic background of HSH in three Polish families and a patient with an X;9 translocation

European journal of human genetics : EJHG, 2006-01, Vol.14 (1), p.55-62

2006

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Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

Human mutation, 2000-10, Vol.16 (4), p.307-314

2000

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Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

Human mutation, 2000-04, Vol.15 (4), p.383-384

2000

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155 SERUM LEVELS OF ANGIOPOIETIN-LIKE PROTEIN 4 (ANGPTL4) ARE INVERSELY CORRELATED WITH OBESITY IN HEALTHY YOUNG ADULT TWINS

Atherosclerosis. Supplements, 2011-06, Vol.12 (1), p.35-35

2011

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Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

American journal of human genetics, 2011-05, Vol.88 (5), p.635-642

2011

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Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins

Journal of lipid research, 2011-08, Vol.52 (8), p.1575-1582

2011

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Liver Fat But Not Other Adiposity Measures Influence Circulating FGF21 Levels in Healthy Young Adult Twins

The journal of clinical endocrinology and metabolism, 2011-02, Vol.96 (2), p.E351-E355

2011

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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Brain (London, England : 1878), 2017-08, Vol.140 (8), p.2093-2103

2017

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Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

Metabolic determination of cell fate through selective inheritance of mitochondria

Somatic Progenitor Cell Vulnerability to Mitochondrial DNA Mutagenesis Underlies Progeroid Phenotypes in Polg Mutator Mice

Mutant Mitochondrial Helicase Twinkle Causes Multiple mtDNA Deletions and a Late-Onset Mitochondrial Disease in Mice

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small‐fiber and mixed neuropathy

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

P.336 - MNDcap gene panel as a diagnostic tool in motor neuron disorders

MNDcap gene panel as a diagnostic tool in motor neuron disorders

Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic small fiber and mixed neuropathy

MYOFIBRILLAR AND DISTAL MYOPATHIES

MYOFIBRILLAR AND DISTAL MYOPATHIES: P.254Pyroxd1 mutations cause recessive adult-onset slowly progressive LGMD

Capsid-modified adenoviral vectors for improved muscle-directed gene therapy

A Locus for Autosomal Dominant Keratoconus: Linkage to 16q22.3-q23.1 in Finnish Families

A new genetic locus for X linked progressive cone-rod dystrophy

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

155 SERUM LEVELS OF ANGIOPOIETIN-LIKE PROTEIN 4 (ANGPTL4) ARE INVERSELY CORRELATED WITH OBESITY IN HEALTHY YOUNG ADULT TWINS

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Liver Fat But Not Other Adiposity Measures Influence Circulating FGF21 Levels in Healthy Young Adult Twins

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

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