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Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration

Pediatric neurology, 2014-12, Vol.51 (6), p.843-845

2014

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Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle

Human mutation, 2003-08, Vol.22 (2), p.175-176

2003

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Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1265-1278

2020

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Spectrum of Movement Disorders in 18p Deletion Syndrome

Movement disorders clinical practice (Hoboken, N.J.), 2019-01, Vol.6 (1), p.70-73

2019

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Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome

Movement disorders clinical practice (Hoboken, N.J.), 2019-11, Vol.6 (8), p.731-732

2019

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Nature genetics, 2001-07, Vol.28 (3), p.211-212

2001

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Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

American journal of human genetics, 2005-09, Vol.77 (3), p.430-441

2005

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The spectrum of epilepsy caused by POLG mutations

Acta neurologica Belgica, 2016-03, Vol.116 (1), p.17-25

2016

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Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

Nucleic acids research, 2004, Vol.32 (10), p.3053-3064

2004

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Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

European journal of human genetics : EJHG, 2007-07, Vol.15 (7), p.779-783

2007

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Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

European journal of human genetics : EJHG, 2003-07, Vol.11 (7), p.547-549

2003

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Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

Human mutation, 2016-08, Vol.37 (8), p.804-811

2016

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Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification

Neuromolecular medicine, 2003-01, Vol.3 (3), p.129-146

2003

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3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability

European journal of medical genetics, 2015-04, Vol.58 (4), p.244-248

2015

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Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

Movement disorders, 2009-01, Vol.24 (2), p.308-309

2009

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What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Brain (London, England : 1878), 2012-12, Vol.135 (12), p.3614-3626

2012

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Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern: HUMAN MUTATION

Human mutation, 2016-08, Vol.37 (8), p.804-811

2016

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Autosomal disorders of mitochondrial DNA maintenance

Acta neurologica Belgica, 2006-06, Vol.106 (2), p.66-72

VAN GOETHEM, Gert

2006

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Colonic transit time in mentally retarded persons

International journal of colorectal disease, 2010-07, Vol.25 (7), p.867-871

2010

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Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

European journal of paediatric neurology, 2012-09, Vol.16 (5), p.542-548

2012

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Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

BMC clinical pathology, 2009-06, Vol.9 (4), p.4-4, Article 4

2009

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Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions

Acta neurologica Belgica, 2002-03, Vol.102 (1), p.39-42

2002

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On a dominantly inherited myopathy with tubular aggregates

Neuromuscular disorders : NMD, 1997-12, Vol.7 (8), p.512-520

1997

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A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes

Archives of neurology (Chicago), 2010-02, Vol.67 (2), p.239

2010

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Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration

Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle

Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

Spectrum of Movement Disorders in 18p Deletion Syndrome

The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome

Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

The spectrum of epilepsy caused by POLG mutations

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability

Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern: HUMAN MUTATION

Autosomal disorders of mitochondrial DNA maintenance

Colonic transit time in mentally retarded persons

Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions

On a dominantly inherited myopathy with tubular aggregates

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes

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