A. Majander

发表

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses

A. Rider, A. Stockman, M. Votruba, 2017, Investigative ophthalmology & visual science.

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

P. Keane, M. Bitner-Glindzicz, P. Chinnery, 2016, Ophthalmology.

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy

A. Stockman, M. Votruba, P. Chinnery, 2017, Mitochondrion.

Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy.

M. Finel, M. Wikström, M. Savontaus, 1996, European journal of biochemistry.

Diphenyleneiodonium inhibits reduction of iron-sulfur clusters in the mitochondrial NADH-ubiquinone oxidoreductase (Complex I).

M. Finel, M. Wikström, A. Majander, 1994, The Journal of biological chemistry.

Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA

L. Peltonen, A. Paetau, A. Suomalainen, 1992, The Lancet.

Palmitate oxidation in muscle mitochondria of patients with the juvenile form of neuronal ceroid-lipofuscinosis.

H. Pihko, A. Majander, P. Santavuori, 1995, American journal of medical genetics.

ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle’s disease

A. Paetau, H. Lindholm, H. Näveri, 2001, Neuromuscular Disorders.

Electron transfer properties of NADH: Ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)

M. Wikström, K. Huoponen, M. Savontaus, 1991, FEBS letters.

Potential Effect of Tumor Necrosis Factor Inhibitors on Trabeculectomy With Mitomycin C for Patients With Juvenile Idiopathic Arthritis-Related Uveitic Glaucoma: A Retrospective Analysis.

T. Kivelä, A. Majander, K. Kotaniemi, 2015, JAMA ophthalmology.

Neuroradiologic findings in children with mitochondrial disorders.

L. Ketonen, A. Suomalainen, H. Pihko, 1998, AJNR. American journal of neuroradiology.

Exclusion of Chromosome 1 q 21-q 3 I from Linkage to Three Pedigrees Affected by the Pigment-Dispersion Syndrome

A. Majander, T. Lamminen, V. Juvonen, 2007 .

The plasma membrane potential of human neutrophils. Role of ion channels and the sodium/potassium pump.

M. Wikström, A. Majander, 1989, Biochimica et biophysica acta.

Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-coa dehydrogenase deficiency with the G1528C mutation

H. Kalimo, J. Rapola, H. Pihko, 1996, Neuromuscular Disorders.

In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria from a Pathogenic Variant in NLRP3.

T. Kivelä, J. Turunen, A. Jaakkola, 2020, American journal of ophthalmology.

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

R. Bowman, M. Votruba, P. Yu-Wai-Man, 2018, European Journal of Human Genetics.

Clinical utility gene card for Jurkute , Neringa 2019-03

R. Bowman, M. Votruba, P. Yu-Wai-Man, 2022 .

A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.

M. Wikström, A. Majander, E. Nikoskelainen, 1995, American journal of human genetics.

Childhood-onset Leber hereditary optic neuropathy

M. Votruba, P. Chinnery, P. Yu-Wai-Man, 2017, British Journal of Ophthalmology.

Isolation and characterisation of subcomplexes of the mitochondrial NADH:ubiquinone oxidoreductase (complex I).

M. Finel, M. Wikström, A. Majander, 1994, European journal of biochemistry.

Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: age dependence and postmortem analysis of enzyme activities

H. Sariola, A. Suomalainen, J. Rapola, 1995, Journal of the Neurological Sciences.

Indications and outcomes of keratoplasties in children during a 40‐year period

T. Kivelä, A. Majander, K. Krootila, 2016, Acta ophthalmologica.

Anterior segment optical coherence tomography in congenital corneal opacities.

A. Majander, K. Krootila, P. Lindahl, 2012, Ophthalmology.

Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.

T. Kivelä, J. Wedenoja, A. Riikonen, 2018, American journal of ophthalmology.

Congenital Hypoplastic Anemia, Diabetes, and Severe Renal Tubular Dysfunction Associated with a Mitochondrial DNA Deletion

H. Sariola, A. Suomalainen, H. Pihko, 1991, Pediatric Research.

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

P. Yu-Wai-Man, N. Beer, T. Barrett, 2021, Journal of Medical Genetics.

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.

L. Peltonen, J. Lönnqvist, M. Savontaus, 1992, The Journal of clinical investigation.

Measurement of surgical stress in anaesthetized children.

M. Paloheimo, K. Uutela, A. Majander, 2008, British journal of anaesthesia.

PAEDIATRICS Measurement of surgical stress in anaesthetized children

M. Paloheimo, K. Uutela, A. Majander, 2008 .

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA

J. Lonnqvist, L. Peltonen, A. Paetau, 1997, Neurology.

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.

M. Bitner-Glindzicz, A. Stockman, K. Brock, 2022, American journal of ophthalmology.

Benzodiazepine sensitivity in Leber's hereditary optic neuroretinopathy

M. Savontaus, H. Kalimo, A. Majander, 1992, The Lancet.

Anterior segment optical coherence tomography in autosomal recessive cornea plana

A. Majander, Elina S. Rantala, 2015, Acta ophthalmologica.

Disorders Associated with Multiple Deletions of Mitochondrial DNA

A. Suomalainen, A. Majander, M. Haltia, 1992, Brain pathology.

Studies on the proton‐translocating NADH:ubiquinone oxidoreductases of mitochondria and Escherichia coli using the inhibitor 1,10‐phenanthroline

M. Finel, A. Majander, 1994, FEBS Letters.

Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

H. Kalimo, A. Suomalainen, J. Rapola, 1995, Pediatric Research.

Visual function in adults born preterm with very low birth weight—A two‐country birth cohort study

E. Kajantie, A. Majander, D. Austeng, 2023, Acta ophthalmologica.

Severe hyperprostaglandin E syndrome with hyperthyroidism — studies of pathogenetic mechanisms

V. Fellman, H. Pihko, H. Seyberth, 1996, Journal of Inherited Metabolic Disease.

Mutations in subunit 6 of the F1F0‐ATP synthase cause two entirely different diseases

M. Wikström, M. Savontaus, A. Majander, 1997, FEBS letters.

Refined Staging for Chorioretinopathy in Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase Deficiency

T. Kivelä, A. Majander, T. Tyni, 2012, Ophthalmic Research.

Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights.

P. Barboni, M. Carbonelli, C. La Morgia, 2022, American journal of ophthalmology.

Clinical Spectrum and Geographic Distribution of Keratitis Fugax Hereditaria Caused by the Pathogenic Variant c.61G>C in NLRP3.

T. Kivelä, J. Turunen, A. Majander, 2021, American journal of ophthalmology.

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.

L. Peltonen, A. Syvänen, A. Suomalainen, 1993, Human molecular genetics.

Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma

M. Harju, J. Turunen, A. Majander, 2022, Acta ophthalmologica.

Isolation and characterisation of subcomplexes of the mitochondrial NADH:ubiquinone oxidoreductase (complex I).

M. Finel, A. Majander, S. Albracht, 1994, European journal of biochemistry.

Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG

E. Sankila, A. Falck, K. Avela, 2022, Acta ophthalmologica.

Gene defects in Leber hereditary optic neuroretinopathy.

K. Huoponen, M. Savontaus, A. Majander, 1992, Biochimica et biophysica acta.

Neuroradiologic findings in children with mitochondrial disorders.

L. Ketonen, A. Suomalainen, H. Pihko, 1998, AJNR. American journal of neuroradiology.