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L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

Neurology, 2004-05, Vol.62 (10), p.1882

2004

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Anxiolytic-like effects of an mGluR 5 antagonist and a mGluR 2/3 agonist, and antidepressant-like effects of an mGluR 7 agonist in the chick social separation stress test, a dual-drug screening model of treatment-resistant depression

Pharmacology, biochemistry and behavior, 2023-06, Vol.227-228, p.173588-173588, Article 173588

2023

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Antidepressant efficacy screening of novel targets in the chick anxiety-depression model

Behavioural pharmacology, 2009-03, Vol.20 (2), p.146

2009

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Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRI AA L and CMT-TRAUK): a double-blind randomised trial

Lancet neurology, 2011-04, Vol.10 (4), p.320-328

2011

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Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease

European journal of neurology, 2015-12, Vol.22 (12), p.1556-1563

2015

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Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients

Neurology, 1993-11, Vol.43 (11), p.2262

1993

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PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker

Brain (London, England : 1878), 2014-06, Vol.137 (Pt 6), p.1614-1620

2014

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Is overwork weakness relevant in Charcot–Marie–Tooth disease?

Journal of neurology, neurosurgery and psychiatry, 2014-12, Vol.85 (12), p.1354-1358

2014

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Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

Neurology, 1994-11, Vol.44 (11), p.2153

1994

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The parafascicular thalamic nucleus modulates messenger RNA encoding glutamate decarboxylase 67 in rat striatum

Neuroscience, 1997-10, Vol.80 (3), p.793-801

1997

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Increased striatal expression of glutamate decarboxylase 67 after priming of 6-hydroxydopamine-lesioned rats

Neuroscience, 1999, Vol.89 (4), p.1183-1187

1999

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The β-oxidation of arachidonic acid and the synthesis of docosahexaenoic acid are selectively and consistently altered in skin fibroblasts from three Zellweger patients versus X-adrenoleukodystrophy, Alzheimer and control subjects

Neuroscience letters, 1998-07, Vol.250 (3), p.145-148

1998

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Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

Neurology, 1990-03, Vol.40 (3 Pt 1), p.495

1990

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Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

Neuromuscular disorders : NMD, 2008-01, Vol.18 (1), p.19-26

2008

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Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

Neuromuscular disorders : NMD, 1998-02, Vol.8 (1), p.3-6

1998

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Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

Neurological sciences, 2004-07, Vol.25 (3), p.130-137

2004

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Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant

Neuromuscular disorders : NMD, 1994-05, Vol.4 (3), p.243-247

1994

Volltextzugriff (PDF)

Analysis of heat shock transcription factor for suppression of polyglutamine toxicity

Brain research bulletin, 2001-11, Vol.56 (3-4), p.353-362

2001

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Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy

Italian journal of neurological sciences, 1998-10, Vol.19 (5), p.291-300

1998

Volltextzugriff (PDF)

Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy

Developmental neuroscience, 1991-01, Vol.13 (4-5), p.274

1991

Volltextzugriff (PDF)

X-linked adrenoleukodystrophy: first report of the Italian Study Group

Italian journal of neurological sciences, 1998-10, Vol.19 (5), p.315-319

1998

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The neuromuscular pathology of experimental Chagas' disease

Journal of the neurological sciences, 1987-11, Vol.81 (2), p.287-300

1987

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Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase

Neurology, 1986-07, Vol.36 (7), p.957

1986

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Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

Journal of neurology, 1995-05, Vol.242 (5), p.304-312

1995

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L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

Anxiolytic-like effects of an mGluR 5 antagonist and a mGluR 2/3 agonist, and antidepressant-like effects of an mGluR 7 agonist in the chick social separation stress test, a dual-drug screening model of treatment-resistant depression

Antidepressant efficacy screening of novel targets in the chick anxiety-depression model

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRI AA L and CMT-TRAUK): a double-blind randomised trial

Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease

Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients

PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker

Is overwork weakness relevant in Charcot–Marie–Tooth disease?

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

The parafascicular thalamic nucleus modulates messenger RNA encoding glutamate decarboxylase 67 in rat striatum

Increased striatal expression of glutamate decarboxylase 67 after priming of 6-hydroxydopamine-lesioned rats

The β-oxidation of arachidonic acid and the synthesis of docosahexaenoic acid are selectively and consistently altered in skin fibroblasts from three Zellweger patients versus X-adrenoleukodystrophy, Alzheimer and control subjects

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant

Analysis of heat shock transcription factor for suppression of polyglutamine toxicity

Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy

Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy

X-linked adrenoleukodystrophy: first report of the Italian Study Group

The neuromuscular pathology of experimental Chagas' disease

Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

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