C. Kornblum

发表

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole‐body 3.0‐T magnetic resonance imaging study

M. Wattjes, G. Lutterbey, R. Schröder, 2009, Acta neurologica Scandinavica.

Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study

W. Kress, B. Schoser, A. Schmidt, 2010, European journal of neurology.

[Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy].

W. Kunz, C. Kornblum, B. Wabbels, 2008, Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft.

Chronisch-progressive externe Ophthalmoplegie und Kearns-Sayre-Syndrom

W. Kunz, C. Kornblum, B. Wabbels, 2008, Der Ophthalmologe.

Early Changes in Skeletal Muscle of Young C22 Mice, A Model of Charcot-Marie-Tooth 1A

J. Reimann, S. Schwartz, C. Kornblum, 2021, Journal of neuromuscular diseases.

Diagnosis and Clinical Development of Sporadic Inclusion Body Myositis and Polymyositis With Mitochondrial Pathology: A Single-Center Retrospective Analysis.

Maren K. L. Winkler, S. Neudecker, J. Reimann, 2021, Journal of neuropathology and experimental neurology.

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

K. Amunts, M. Tittgemeyer, B. Weber, 2019, PloS one.

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

H. Mandel, P. Sedgwick, S. Rahman, 2019, Journal of clinical medicine.

Somatostatin receptor scintigraphy in the follow-up of myasthenia gravis

T. Klockgether, S. Flacke, H. Biersack, 2007, Neurological Sciences.

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

S. Dimauro, E. Malfatti, N. Romero, 2014, Annals of neurology.

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease

K. Claeys, W. Stenzel, C. Mawrin, 2020, Neuropathology and applied neurobiology.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

A. Seller, P. Chinnery, R. Horvath, 2010, Neurology.

Multiple system atrophy mimicry in MRI: Watch out for paraneoplastic rhombencephalitis

T. Klockgether, E. Hattingen, V. Keil, 2020, Journal of Clinical Neuroscience.

Creatine has no beneficial effect on skeletal muscle energy metabolism in patients with single mitochondrial DNA deletions: a placebo‐controlled, double‐blind 31P‐MRS crossover study

T. Klockgether, A. Papassotiropoulos, M. Vorgerd, 2005, European journal of neurology.

Towards Central Nervous System Involvement in Adults with Hereditary Myopathies

J. Reimann, C. Kornblum, 2020, Journal of neuromuscular diseases.

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

F. Glocker, B. Schoser, F. Hanisch, 2012, Journal of Inherited Metabolic Disease.

Urodynamic and clinical studies in patients with late‐onset Pompe disease and lower urinary tract symptoms

R. Kirschner-Hermanns, R. Anding, C. Kornblum, 2020, Neurourology and urodynamics.

Mitochondrial disease in adults: recent advances and future promise

Robert W. Taylor, D. Turnbull, M. Mancuso, 2021, The Lancet Neurology.

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

S. Züchner, R. Schüle, L. Schöls, 2013, European Journal of Human Genetics.

Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease

J. Reimann, C. Kornblum, C. von Landenberg, 2022, Neuromuscular Disorders.

Creatine supplementation results in elevated phosphocreatine/adenosine triphosphate (ATP) ratios in the calf muscle of athletes but not in patients with myopathies

M. Vorgerd, J. Zange, H. Heck, 2002, Annals of neurology.

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

F. Glocker, C. Wessig, B. Schoser, 2009, Journal of Neurology.

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

H. Fuchs, L. Eichinger, M. Vorgerd, 2018, Biochemical and biophysical research communications.

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

A. Toga, P. Thompson, J. Ruhlmann, 2008, Journal of Neurology.

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

T. Klockgether, W. Kress, J. Reul, 2004, Journal of Neurology.

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

R. Moxley, G. Meola, G. Bassez, 2019, Neurology. Clinical practice.

Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2

H. Schild, M. Wattjes, G. Lutterbey, 2006, Journal of Neurology.

[Polyglycosan body myopathy].

D. Fischer, C. Kornblum, K. Kappes-Horn, 2006, Der Nervenarzt.

Wattjes Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2 A whole body highfield MRI study

H. Schild, G. Lutterbey, R. Schröder, 2022 .

Antibodies to metabotropic glutamate receptor 5 in the Ophelia syndrome

R. Balice-Gordon, J. Honnorat, C. Bien, 2011, Neurology.

ZASPopathy with childhood-onset distal myopathy

W. Kress, Daniel K. Thomas, J. Reimann, 2012, Journal of Neurology.

Alterations of Excitation–Contraction Coupling and Excitation Coupled Ca2+ Entry in Human Myotubes Carrying CAV3 Mutations Linked to Rippling Muscle Disease

E. Niggli, M. Walter, S. Treves, 2011, Human mutation.

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

R. Lang-Roth, G. Nürnberg, P. Nürnberg, 2017, Audiology and Neurotology.

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

C. Tempelmann, A. Schoenfeld, S. Kropf, 2013, Muscle & nerve.

Diagnose und Therapie des Late-onset-Morbus-Pompe

M. Vorgerd, B. Schoser, Z. Lukacs, 2013, Der Nervenarzt.

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

V. Mootha, G. Comi, M. Minczuk, 2013, Nature Genetics.

ENDPLATE DESTRUCTION DUE TO MATERNAL ANTIBODIES IN ARTHROGRYPOSIS MULTIPLEX CONGENITA

A. Vincent, L. Jacobson, J. Reimann, 2009, Neurology.

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

H. Vetter, S. Schmidt, G. Ulrich-Merzenich, 2006, Artificial organs.

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

H. Neumann, E. Hattingen, P. Nürnberg, 2016, Brain : a journal of neurology.

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

H. Urbach, H. Tschampa, W. Kunz, 2013, Journal of Neurology.

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNAPhe gene

I. Nelson, W. Kunz, S. Lavoué, 2010, Neurology.

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

Arndt-Hendrik Schievelkamp, C. Kornblum, B. Wabbels, 2020, Journal of Clinical Neuroscience.

Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

H. Prokisch, H. Cordell, M. Mancuso, 2022, medRxiv.

Proof of progression over time: Finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation

C. Elger, H. Urbach, S. Frank, 2009, Seizure.

Pregnancy and delivery in women with Pompe disease.

M. Vorgerd, R. Kley, B. Schoser, 2014, Molecular genetics and metabolism.

Progressive Cardiac Dysfunction in Bethlem Myopathy During Pregnancy

K. Claeys, U. Gembruch, C. Kornblum, 2014, Obstetrics and gynecology.

Transient downbeat nystagmus after intravenous administration of the opioid piritramide.

O. Kaut, C. Kornblum, 2010, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Clinical features, prognostic factors, and antibody effects in anti-mGluR1 encephalitis

J. Honnorat, C. Bien, M. Rosenfeld, 2020, Neurology.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Myopathy and Neuropathy with Pipestem Capillaries and Vascular Activated Complement Deposition

W. Brück, J. Reimann, C. Kornblum, 2011, Neurology.

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

R. Kley, W. Kunz, I. Wittig, 2016, Acta Neuropathologica.

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy

C. Kuhl, K. Claeys, J. Weis, 2013, Neurology.

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

K. Kollewe, R. Dengler, A. Kudin, 2013, Acta Neuropathologica.

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

B. Schlotter-Weigel, T. Meitinger, T. Strom, 2021, Brain : a journal of neurology.

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

M. Minczuk, A. Reyes, D. Cysewski, 2014, Human molecular genetics.

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

M. Tittgemeyer, B. Weber, T. Klockgether, 2011, Brain : a journal of neurology.

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

H. Prokisch, K. Kuhn, L. Schöls, 2016, Journal of Neurology.

Current Progress in CNS Imaging of Myotonic Dystrophy

M. Minnerop, C. Kornblum, C. Gliem, 2018, Front. Neurol..

Whole‐body high‐field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita

M. Wattjes, K. Jurkat-Rott, B. Czermin, 2010, Acta neurologica Scandinavica.

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

S. Bosbach, Michael Wagner, R. Schröder, 2003, Brain : a journal of neurology.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

T. Strom, H. Prokisch, P. Charbel Issa, 2021, The Journal of clinical investigation.

Variability of the recessive oculopharyngeal muscular dystrophy phenotype

W. Kress, S. Vielhaber, A. Semmler, 2007, Muscle & nerve.

Mitochondrial Retinopathy.

P. Charbel Issa, R. Caswell, W. Kunz, 2021, Ophthalmology. Retina.

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

Robert W. Taylor, W. Kunz, G. Falkous, 2017, Neurology: Genetics.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018, The Journal of clinical investigation.

Clonally Expanded Mitochondrial DNA Mutations in Epileptic Individuals With Mutated DNA Polymerase &ggr;

Robert W. Taylor, C. Elger, P. Chinnery, 2008, Journal of neuropathology and experimental neurology.

Delineating MT-ATP6-associated disease

Marni J. Falk, R. Ganetzky, H. Prokisch, 2020, Neurology. Genetics.

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

G. Comi, N. Romero, G. Piluso, 2021, Acta Neuropathologica.

From isolated neuropathy to early onset neurodegeneration

R. Ganetzky, H. Prokisch, L. Schöls, 2022 .

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

T. Klockgether, S. Paus, W. Kunz, 2008, Movement disorders : official journal of the Movement Disorder Society.

Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis

T. Klockgether, W. Kunz, Thorsten Okulla, 2005, Graefe's Archive for Clinical and Experimental Ophthalmology.

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

C. Elger, K. Khrapko, W. Kunz, 2005, Nature Genetics.

Global brain dysmyelination with above‐average verbal skills in 18q − syndrome with a 17 Mb terminal deletion

H. Urbach, C. Helmstaedter, H. Engels, 2006, Acta neurologica Scandinavica.

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

U. Schlötzer-Schrehardt, C. Thiel, F. Norwood, 2016, Acta neuropathologica communications.

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

R. Wiesner, W. Kunz, R. Schröder, 2008, Bioscience reports.

Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns–Sayre syndrome

T. Klockgether, S. Herberhold, R. Schröder, 2005, Journal of Neurology.

Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism

C. Elger, J. Rudolph, R. Wiesner, 2004, Journal of Medical Genetics.

[Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)].

T. Klockgether, W. Kunz, R. Schröder, 2004, Klinische Monatsblätter für Augenheilkunde.

Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions

H. Reichmann, T. Klockgether, P. Seibel, 2001, Neurology.

Creatine supplementation results in elevated PCr/ATP ratios in the calf muscle of athletes but not in patients with myopathies

M. Vorgerd, J. Zange, H. Heck, 2001 .

New Insights into the Metabolic Consequences of Large‐Scale mtDNA Deletions: A Quantitative Analysis of Biochemical, Morphological, and Genetic Findings in Human Skeletal Muscle

C. Elger, H. Reichmann, T. Klockgether, 2000, Journal of neuropathology and experimental neurology.

[The interesting case No. 32. Secondary cricopharyngeal achalasia in underlying mitochondrial myopathy].

R. Schröder, C. Kornblum, E. Walther, 2000, Laryngo- rhino- otologie.

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

P. Roach, G. Dellgren, G. Tasca, 2019, The Journal of clinical endocrinology and metabolism.

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

C. Elger, H. Heinze, W. Kunz, 2005, Brain : a journal of neurology.

[Diagnosis and therapy of late onset Pompe disease].

M. Vorgerd, B. Schoser, Z. Lukacs, 2013, Der Nervenarzt.

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

M. Vorgerd, R. Kley, B. Schoser, 2014, JIMD reports.

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)

K. Claeys, Jacqueline A Palace, A. Vincent, 2023, Brain : a journal of neurology.

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

E. Bertini, M. Tarnopolsky, G. Enns, 2023, Neurology.

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

W. Kunz, C. Kornblum, B. Wabbels, 2019, Neuromuscular Disorders.

Wernicke encephalopathy SWI detects petechial hemorrhages in mammillary bodies in vivo

T. Klockgether, E. Hattingen, A. Müller, 2016 .

Computed tomography derived cervical fat-free muscle fraction as an imaging-based outcome marker in patients with acute ischemic stroke: a pilot study

A. Faron, A. Radbruch, D. Paech, 2023, BMC Neurology.

Dopamine transporter SPECT in patients with mitochondrial disorders

T. Klockgether, U. Wüllner, M. Minnerop, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Levodopa therapy in a Lesch‐Nyhan disease patient: Pathological, biochemical, neuroimaging, and therapeutic remarks

T. Klockgether, S. Paus, A. Ormazabal, 2008, Movement disorders : official journal of the Movement Disorder Society.

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

T. Klockgether, S. Paus, W. Kunz, 2008, Movement disorders : official journal of the Movement Disorder Society.

Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease.

J. Reimann, C. Kornblum, C. von Landenberg, 2022, Neuromuscular disorders : NMD.

Morphological and molecular comparison of HIV-associated and sporadic inclusion body myositis

A. Brunn, M. Deckert, H. Goebel, 2023, Journal of Neurology.