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List of works by Cornelia Kornblum

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

scientific article published on 31 January 2012

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

scientific article

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

scientific article published on 10 June 2017

Alterations of excitation-contraction coupling and excitation coupled Ca2+ entry in human myotubes carrying CAV3 mutations linked to rippling muscle ⬇️

scientific article published on February 3, 2011

Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations

scientific article published in July 2008

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls

scientific article published on 5 April 2017

Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma

scientific article

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia

scientific article published on 01 April 2008

Consensus-based care recommendations for adults with myotonic dystrophy type 2

scientific article published on 01 August 2019

Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2

scientific article published on 01 June 2004

Current Progress in CNS Imaging of Myotonic Dystrophy

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration

scientific article published on 13 January 2020

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy.

scientific article published on 6 August 2013

Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis

scientific article

Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2 : a whole body highfield MRI study

scientific article published on 06 March 2006

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNA mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia

scientific article published on 25 February 2019

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

scientific article published on 27 April 2016

Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome

scientific article published in May 2003

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry

scientific article published on 19 March 2016

Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2.

scientific article published on 03 September 2008

Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis

scientific article published on 27 December 2006

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

scientific article

Long-term effects of a multimodal approach including immunoadsorption for the treatment of myasthenic crisis

scientific article published on 01 August 2006

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy

scientific article published on 17 December 2015

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

scientific article

Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies--a comment

scientific article published on 01 December 2005

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

scientific article published on 28 August 2012

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

scientific article published on 8 July 2016

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

scientific article published on 13 March 2013

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation

scientific article

Pregnancy and delivery in women with Pompe disease

scientific article

Progressive cardiac dysfunction in Bethlem myopathy during pregnancy

scientific article published on 01 February 2014

Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy

scientific article published on 17 July 2005

Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier

scientific article published on 30 January 2019

Sonographic assessment of the optic nerve and the central retinal artery in idiopathic intracranial hypertension

scientific article published on 17 September 2019

Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP

scientific article published on 04 February 2013

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

scientific article published on 19 February 2018

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

scientific article

The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?

article

Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study

Transient downbeat nystagmus after intravenous administration of the opioid piritramide

scientific article published in June 2010

Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey

scientific article

Variability of the recessive oculopharyngeal muscular dystrophy phenotype

scientific article published on 01 May 2007

Wernicke encephalopathy

scientific article published on 31 October 2016

ZASPopathy with childhood-onset distal myopathy

scientific article published on 23 May 2012

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