A. Manole

发表

Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis

P. Varalakshmi, H. Houlden, B. Ashokkumar, 2018, Molecular and Cellular Biochemistry.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

A. Singleton, J. Hardy, K. Bhatia, 2016, Brain : a journal of neurology.

Resonance Raman Spectra of Five-Coordinate Heme-Nitrosyl Cytochromes c': Effect of the Proximal Heme-NO Environment.

P. Dobbin, A. Manole, C. Andrew, 2015, Biochemistry.

Identification of an age-related Parkinson's disease risk factor that regulates sulfur metabolism

Sara B. Linker, A. Brice, J. Winkler, 2021 .

Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

H. Houlden, G. Koutsis, M. Panas, 2015, Journal of Neurology.

Severe axonal neuropathy is a late manifestation of SPG11

H. Houlden, M. Reilly, Sherif Hamed, 2016, Journal of Neurology.

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

M. Reilly, H. Houlden, J. Gámez, 2016, neurogenetics.

Manole et al., KCNA2 in hereditary spastic paraplegia De-novo KCNA2 mutations cause hereditary spastic paraplegia Running head: KCNA2 in hereditary spastic paraplegia

D. Kullmann, H. Houlden, M. Hanna, 2017 .

De novo KCNA2 mutations cause hereditary spastic paraplegia

D. Kullmann, H. Houlden, M. Hanna, 2017, Annals of neurology.

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

J. Rothman, B. Wirth, S. Efthymiou, 2017, Annals of neurology.

Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson’s disease patients

Sara B. Linker, Simon T. Schafer, M. C. Marchetto, 2022, NPJ Parkinson's disease.

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

I. Parees, F. Gago, H. Houlden, 2019, Human Genetics.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

E. Bertini, R. Carrozzo, H. Prokisch, 2022, American journal of human genetics.

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia

A. Lang, M. Hanna, T. Mestre, 2016, neurogenetics.

Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases

P. Varalakshmi, H. Houlden, B. Ashokkumar, 2017, Journal of clinical medicine.

Clinical, pathological and functional characterization of riboﬂavin-responsive neuropathy

A. Singleton, D. Kullmann, F. Muntoni, 2017 .

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

N. Wood, S. Efthymiou, H. Houlden, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

HLA-DRB1*1501 influences long-term disability progression and tissue damage on MRI in relapse-onset multiple sclerosis

O. Ciccarelli, C. Wheeler-Kingshott, K. Miszkiel, 2022, Multiple sclerosis.

Tyrosyl radical in haemoglobin and haptoglobin-haemoglobin complex: how does haptoglobin make haemoglobin less toxic?

A. Manole, D. Svistunenko, 2019, Journal of biomedical research.

LETM1 couples mitochondrial DNA metabolism and nutrient preference

H. Houlden, A. Spinazzola, I. Holt, 2018, EMBO molecular medicine.

A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea

C. Davies, S. Efthymiou, H. Houlden, 2018, Movement disorders : official journal of the Movement Disorder Society.

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

E. Bertini, M. Ryten, M. Tartaglia, 2017, Brain : a journal of neurology.

Upregulated extracellular matrix-related genes and impaired synaptic activity in dopaminergic and hippocampal neurons derived from Parkinson’s disease patients with PINK1 and PARK2 mutations

Shani Stern, A. Manole, Utkarsh Tripathi, 2023, bioRxiv.

Reduced synaptic activity and dysregulated extracellular matrix pathways are common phenotypes in midbrain neurons derived from sporadic and mutation-associated Parkinson’s disease patients

Sara B. Linker, Simon T. Schafer, M. C. Marchetto, 2022, bioRxiv.

Next-generation sequencing in neuromuscular diseases.

S. Efthymiou, H. Houlden, A. Manole, 2016, Current opinion in neurology.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

A Review of Copy Number Variants in Inherited Neuropathies

S. Efthymiou, H. Houlden, V. Salpietro, 2018, Current genomics.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

A. Singleton, D. Kullmann, F. Muntoni, 2017, Brain : a journal of neurology.

Riboflavin Transporter Deficiency Neuronopathy

H. Houlden, A. Manole, 2015 .

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

Robert W. Taylor, Sachit Shah, H. Houlden, 2021, Molecular Biology Reports.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function

M. Ryten, A. Mukherjee, S. Efthymiou, 2017, Human mutation.

Mitochondrial impairment and rescue in riboflavin responsive neuropathy

A. Singleton, D. Kullmann, F. Muntoni, 2017, bioRxiv.

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.

H. Houlden, P. Fratta, A. Manole, 2014, Current opinion in neurology.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

G. Plant, M. Zeviani, K. Thangaraj, 2017, Neurology: Genetics.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, American journal of human genetics.

Analysis of the prion protein gene in multiple system atrophy

W. Meissner, J. Holton, S. Efthymiou, 2017, Neurobiology of Aging.

Synaptic dysfunction and dysregulation of extracellular matrix-related genes in dopaminergic neurons derived from Parkinson’s disease sporadic patients and with GBA1 mutations

J. Winkler, H. Houlden, A. Manole, 2023, bioRxiv.

Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy

S. Züchner, S. Brandner, H. Houlden, 2019, Neurology: Genetics.

Adrenaline induces calcium signal in astrocytes and vasoconstriction via activation of monoamine oxidase.

A. Abramov, P. Angelova, D. Stavtsev, 2020, Free radical biology & medicine.

A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function

M. Ryten, A. Mukherjee, S. Efthymiou, 2017, Human mutation.

Conformational control of the binding of diatomic gases to cytochrome c′

P. Dobbin, Michael T. Wilson, A. Manole, 2015, JBIC Journal of Biological Inorganic Chemistry.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2021, American journal of human genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Upregulated ECM genes and increased synaptic activity in Parkinson’s human DA neurons with PINK1/ PRKN mutations

A. Manole, Ritu Nayak, Shani Stern, 2024, NPJ Parkinson's disease.