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Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

Nature protocols, 2012-06, Vol.7 (6), p.1235-1246

2012

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Melanoma addiction to the long non-coding RNA SAMMSON

Nature (London), 2016-03, Vol.531 (7595), p.518-522

2016

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Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis

eLife, 2023-07, Vol.12

2023

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CHCHD2 harboring Parkinson's disease-linked T61I mutation precipitates inside mitochondria and induces precipitation of wild-type CHCHD2

Human molecular genetics, 2020-05, Vol.29 (7), p.1096-1106

2020

Volltextzugriff (PDF)

Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

Frontiers in neurology, 2021-07, Vol.12, p.712010-712010

2021

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Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

Human molecular genetics, 2017-03, Vol.26 (6), p.1087-1103

2017

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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.24-24, Article 24

2024

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Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice

Neurobiology of disease, 2015, Vol.73, p.275-288

2015

Volltextzugriff (PDF)

Local mitochondrial replication in the periphery of neurons requires the eEF1A1 protein and thetranslation of nuclear-encoded proteins

iScience, 2024-04, Vol.27 (4), p.109136-109136

2024

Volltextzugriff (PDF)

PARL: The mitochondrial rhomboid protease

Seminars in cell & developmental biology, 2016-12, Vol.60, p.19-28

2016

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Generalized Lysosome-Associated Membrane Protein-2 Defect Explains Multisystem Clinical Involvement and Allows Leukocyte Diagnostic Screening in Danon Disease

The American journal of pathology, 2006-04, Vol.168 (4), p.1309-1320

2006

Volltextzugriff (PDF)

Restricted Sensitivity of FJ-C Staining to Assess Neuronal Degeneration and Death in Preclinical Mouse Studies

Veterinary pathology, 2021-07, Vol.58 (4), p.643

2021

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Secondary coenzyme Q deficiency in neurological disorders

Free radical biology & medicine, 2021-03, Vol.165, p.203-218

2021

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Severe dysphagia in lower cranial nerve involvement as the initial symptom of Wegener's granulomatosis

Journal of the neurological sciences, 2007-12, Vol.263 (1), p.187-190

2007

Volltextzugriff (PDF)

Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study

Lancet neurology, 2023-05, Vol.22 (5), p.395-406

2023

Volltextzugriff (PDF)

Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits

Cell, 2020-03, Vol.180 (6), p.1178-1197.e20

2020

Volltextzugriff (PDF)

Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion

Neuromuscular disorders : NMD, 2021-05, Vol.31 (5), p.450-455

2021

Volltextzugriff (PDF)

PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome

Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (1), p.277-286

2019

Volltextzugriff (PDF)

Denture cream: an unusual source of excess zinc, leading to hypocupremia and neurologic disease

Neurology, 2009-07, Vol.73 (1), p.76

2009

Volltextzugriff (PDF)

Spontaneous Incidental Brain Lesions in C57BL/6J Mice

Veterinary pathology, 2020-01, Vol.57 (1), p.172

2020

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PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration

The Journal of cell biology, 2023-03, Vol.222 (3), p.1

2023

Volltextzugriff (PDF)

Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis: A Randomized Clinical Trial

JAMA neurology, 2021-04, Vol.78 (4), p.426

2021

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Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

Melanoma addiction to the long non-coding RNA SAMMSON

Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis

CHCHD2 harboring Parkinson's disease-linked T61I mutation precipitates inside mitochondria and induces precipitation of wild-type CHCHD2

Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis

Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice

Local mitochondrial replication in the periphery of neurons requires the eEF1A1 protein and thetranslation of nuclear-encoded proteins

PARL: The mitochondrial rhomboid protease

Generalized Lysosome-Associated Membrane Protein-2 Defect Explains Multisystem Clinical Involvement and Allows Leukocyte Diagnostic Screening in Danon Disease

Restricted Sensitivity of FJ-C Staining to Assess Neuronal Degeneration and Death in Preclinical Mouse Studies

Secondary coenzyme Q deficiency in neurological disorders

Severe dysphagia in lower cranial nerve involvement as the initial symptom of Wegener's granulomatosis

Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study

Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits

Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion

PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome

Denture cream: an unusual source of excess zinc, leading to hypocupremia and neurologic disease

Spontaneous Incidental Brain Lesions in C57BL/6J Mice

PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration

Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis: A Randomized Clinical Trial

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