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Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

American journal of human genetics, 2012-06, Vol.90 (6), p.1102-1107

2012

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Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration

PLoS genetics, 2012-11, Vol.8 (11), p.e1003021-e1003021

2012

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A Novel Focal Seizure Pattern Generated in Superficial Layers of the Olfactory Cortex

The Journal of neuroscience, 2017-03, Vol.37 (13), p.3544-3554

2017

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Loss of exosomes in progranulin-associated frontotemporal dementia

Neurobiology of aging, 2016-04, Vol.40, p.41-49

2016

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Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

Epilepsia (Copenhagen), 2014-06, Vol.55 (6), p.e56-e59

2014

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Therapy in prion diseases

Current topics in medicinal chemistry, 2013-10, Vol.13 (19), p.2465

2013

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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

American journal of human genetics, 2011-05, Vol.88 (5), p.566-573

2011

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Optimal Plasma Progranulin Cutoff Value for Predicting Null Progranulin Mutations in Neurodegenerative Diseases: A Multicenter Italian Study

Neuro-degenerative diseases, 2012-01, Vol.9 (3), p.121-127

2012

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Mutant Prion Protein Expression Causes Motor and Memory Deficits and Abnormal Sleep Patterns in a Transgenic Mouse Model

Neuron (Cambridge, Mass.), 2008-11, Vol.60 (4), p.598-609

2008

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The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review

Journal of the neurological sciences, 2016-05, Vol.364, p.77-83

2016

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New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization

Neurobiology of aging, 2012-04, Vol.33 (4), p.834.e1-834.e6

2012

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Stem Cell Salvage of Injured Peripheral Nerve

Cell transplantation, 2015-02, Vol.24 (2), p.213-222

2015

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IgM deposits on skin nerves in anti-myelin-associated glycoprotein neuropathy

Annals of neurology, 2005-02, Vol.57 (2), p.180-187

2005

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Expression of capsaicin receptor immunoreactivity in human peripheral nervous system and in painful neuropathies

Journal of the peripheral nervous system, 2006-09, Vol.11 (3), p.262-271

2006

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Brain delivery of AAV9 expressing an anti-PrP monovalent antibody delays prion disease in mice

Prion, 2012-09, Vol.6 (4), p.383-390

2012

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Tubule and neurofilament immunoreactivity in human hairy skin: Markers for intraepidermal nerve fibers

Muscle & nerve, 2004-09, Vol.30 (3), p.310-316

2004

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Neurotoxic and gliotrophic activity of a synthetic peptide homologous to Gerstmann-Sträussler-Scheinker disease amyloid protein

The Journal of neuroscience, 2007-02, Vol.27 (7), p.1576-1583

2007

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Pathologic prion protein is specifically recognized in situ by a novel PrP conformational antibody

Neurobiology of disease, 2006-09, Vol.23 (3), p.717-724

2006

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Heterologous Stacking of Prion Protein Peptides Reveals Structural Details of Fibrils and Facilitates Complete Inhibition of Fibril Growth

The Journal of biological chemistry, 2009-05, Vol.284 (19), p.12809-12820

2009

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Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

Brain (London, England : 1878), 2014-01, Vol.137 (Pt 1), p.57-68

2014

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Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

Human molecular genetics, 2012-12, Vol.21 (24), p.5294-5305

2012

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Type II focal cortical dysplasia: Ex vivo 7T magnetic resonance imaging abnormalities and histopathological comparisons

Annals of neurology, 2016-01, Vol.79 (1), p.42-58

2016

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The Peculiar Role of the A2V Mutation in Amyloid-β (Aβ) 1–42 Molecular Assembly

The Journal of biological chemistry, 2014-08, Vol.289 (35), p.24143-24152

2014

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Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis

Science (American Association for the Advancement of Science), 2009-03, Vol.323 (5920), p.1473-1477

2009

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Blurring in patients with temporal lobe epilepsy: clinical, high-field imaging and ultrastructural study

Brain (London, England : 1878), 2012-08, Vol.135 (Pt 8), p.2337-2349

2012

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Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration

A Novel Focal Seizure Pattern Generated in Superficial Layers of the Olfactory Cortex

Loss of exosomes in progranulin-associated frontotemporal dementia

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

Therapy in prion diseases

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

Optimal Plasma Progranulin Cutoff Value for Predicting Null Progranulin Mutations in Neurodegenerative Diseases: A Multicenter Italian Study

Mutant Prion Protein Expression Causes Motor and Memory Deficits and Abnormal Sleep Patterns in a Transgenic Mouse Model

The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization

Stem Cell Salvage of Injured Peripheral Nerve

IgM deposits on skin nerves in anti-myelin-associated glycoprotein neuropathy

Expression of capsaicin receptor immunoreactivity in human peripheral nervous system and in painful neuropathies

Brain delivery of AAV9 expressing an anti-PrP monovalent antibody delays prion disease in mice

Tubule and neurofilament immunoreactivity in human hairy skin: Markers for intraepidermal nerve fibers

Neurotoxic and gliotrophic activity of a synthetic peptide homologous to Gerstmann-Sträussler-Scheinker disease amyloid protein

Pathologic prion protein is specifically recognized in situ by a novel PrP conformational antibody

Heterologous Stacking of Prion Protein Peptides Reveals Structural Details of Fibrils and Facilitates Complete Inhibition of Fibril Growth

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

Type II focal cortical dysplasia: Ex vivo 7T magnetic resonance imaging abnormalities and histopathological comparisons

The Peculiar Role of the A2V Mutation in Amyloid-β (Aβ) 1–42 Molecular Assembly

Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis

Blurring in patients with temporal lobe epilepsy: clinical, high-field imaging and ultrastructural study

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