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Charcot–Marie–Tooth disease type 2E, a disorder of the cytoskeleton

Brain (London, England : 1878), 2007-02, Vol.130 (2), p.394-403

2007

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Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E

Neurology, 2004-04, Vol.62 (8), p.1429-1431

2004

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Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease

Neurology, 2007-07, Vol.69 (3), p.291-295

2007

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Human Immunodeficiency Virus-Associated Peripheral Neuropathies

Mayo Clinic proceedings, 2006-02, Vol.81 (2), p.213-219

2006

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The role of muscle biopsy in investigating isolated muscle pain

Neurology, 2007-01, Vol.68 (3), p.181-186

2007

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Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H

Neurology, 2009-03, Vol.72 (13), p.1160-1164

2009

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Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

Neurology, 2006-04, Vol.66 (8), p.1207-1210

2006

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Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation

Neurology, 2010-06, Vol.74 (23), p.1919-1921

2010

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Critical illness myopathy and neuropathy

The Lancet (British edition), 1996-06, Vol.347 (9015), p.1579-1582

1996

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Natural history of CMT1A including QoL: A 2-year prospective study

Neuromuscular disorders : NMD, 2008-03, Vol.18 (3), p.199-203

2008

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Natural history of Charcot–Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life

Neurological sciences, 2010-04, Vol.31 (2), p.175-178

2010

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MELAS: clinical phenotype and morphological brain abnormalities

Acta neuropathologica, 2003-09, Vol.106 (3), p.202-212

2003

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Relationship between clinical examination, Quality of Life, disability and depression in CMT patients: Italian Multicenter study

Neurological sciences, 2008-06, Vol.29 (3), p.157-162

2008

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Focal lesions area feature of chronic inflammatory demyelinating polyneuropathy (CIDP)

Acta neuropathologica, 1998-12, Vol.96 (6), p.603-609

1998

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Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study

Neurological sciences, 2006-12, Vol.27 (6), p.417-423

2006

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Paired transcranial magnetic stimulation for the early diagnosis of corticobasal degeneration

Clinical neurophysiology, 2003-02, Vol.114 (2), p.272-278

2003

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Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

Human mutation, 2001-01, Vol.18 (1), p.32-41

2001

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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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Phosphorylated 14-3-3ζ protein in the CSF of neuroleptic-treated patients

Neurology, 2005-05, Vol.64 (9), p.1618-1620

2005

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Insurgent Testimonies : Witnessing Colonial Trauma in Modern and Anglophone Literature

Rizzuto, Nicole M

First edition., 2015

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Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity

Neurology, 2003-10, Vol.61 (7), p.988-990

2003

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy and Right-to-Left Shunt: Lack of Evidence for an Association in a Prevalence Study

European neurology, 2009-01, Vol.61 (1), p.46-49

2009

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Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene

Neurology, 2004-12, Vol.63 (11), p.2180-2183

2004

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A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

Neuromuscular disorders : NMD, 2001-07, Vol.11 (5), p.481-484

2001

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A somatic and germline mosaic mutation in MPZ/P 0 mimics recessive inheritance of CMT1B

Neurology, 2001-07, Vol.57 (1), p.101-105

2001

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Charcot–Marie–Tooth disease type 2E, a disorder of the cytoskeleton

Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease

Human Immunodeficiency Virus-Associated Peripheral Neuropathies

The role of muscle biopsy in investigating isolated muscle pain

Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation

Critical illness myopathy and neuropathy

Natural history of CMT1A including QoL: A 2-year prospective study

Natural history of Charcot–Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life

MELAS: clinical phenotype and morphological brain abnormalities

Relationship between clinical examination, Quality of Life, disability and depression in CMT patients: Italian Multicenter study

Focal lesions area feature of chronic inflammatory demyelinating polyneuropathy (CIDP)

Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study

Paired transcranial magnetic stimulation for the early diagnosis of corticobasal degeneration

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

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

Phosphorylated 14-3-3ζ protein in the CSF of neuroleptic-treated patients

Insurgent Testimonies : Witnessing Colonial Trauma in Modern and Anglophone Literature

Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy and Right-to-Left Shunt: Lack of Evidence for an Association in a Prevalence Study

Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene

A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

A somatic and germline mosaic mutation in MPZ/P 0 mimics recessive inheritance of CMT1B

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