X. Ferrer

发表

Mutations in dynamin 2 cause dominant centronuclear myopathy

A. Beggs, N. Romero, H. Lochmüller, 2005, Nature Genetics.

Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family

E. Pegoraro, R. Petersen, P. Gambetti, 1997, Neurology.

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

A. Durr, N. Elleuch, C. Depienne, 2006, Neurology.

111In-Platelets and 99mTc-Human Polyclonal Immunoglobulin (HIG) Scintigraphy in Patients with Cerebrovascular Disease

X. Ferrer, J. Martín-Comín, J. Rubio, 1994 .

Extensive cerebral calcification and retinal changes in pseudohypoparathyroidism

X. Ferrer, J. Julien, E. Ellie, 1989, Journal of Neurology.

Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies

L. Servais, B. Grosbois, N. Romero, 2014, Medicine.

[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

D. Hannequin, A. Toutain, V. Drouin‐Garraud, 2005, Revue neurologique.

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

I. Desguerre, T. Arimura, H. Worman, 2004, Muscle & nerve.

Adrenomyeloneuropathy: demonstration of inclusions at the level of the peripheral nerve.

D. Darriet, J. Vallat, X. Ferrer, 1981, European neurology.

Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease?

A. Ducros, E. Tournier-Lasserve, X. Ferrer, 2001, Journal of Neurology.

Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

E. Mercuri, K. Bushby, F. Muntoni, 2000, Annals of neurology.

CAPN3 mutations in patients with idiopathic eosinophilic myositis

N. Romero, N. Lévy, F. Leturcq, 2006 .

Improvement of severe trunk spasms by bilateral high‐frequency stimulation of the motor thalamus in a patient with chorea‐acanthocytosis

E. Cuny, D. Guehl, B. Bioulac, 2002, Movement disorders : official journal of the Movement Disorder Society.

Peripheral myelin modification in CMT1B correlates with MPZ gene mutations

G. L. Masson, P. Latour, I. Bernard, 1999, Neuromuscular Disorders.

IgM Demyelinative neuropathy with amyloidosis and biclonal gammopathy

J. Vallat, X. Ferrer, J. Julien, 1984, Annals of neurology.

Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

F. Chapon, G. Bassez, D. Orlikowski, 2016, Scientific Reports.

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia

G. Másson, C. Goizet, X. Ferrer, 2004, Journal of Medical Genetics.

Familial idiopathic striopallidodentate calcifications

X. Ferrer, J. Julien, E. Ellie, 1989, Neurology.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

Amyloid neuropathy: a retrospective study of 35 peripheral nerve biopsies

X. Ferrer, A. Vital, C. Vital, 2004, Journal of the peripheral nervous system : JPNS.

Chronic inflammatory demyelinating polyneuropathy associated with dysglobulinemia: a peripheral nerve biopsy study in 18 cases

B. Guiraud-Chaumeil, A. Steck, M. Barat, 2000, Acta Neuropathologica.

Peripheral Nerve Biopsy Study in 19 Cases with 17p11.2 Deletion

P. Latour, X. Ferrer, A. Vital, 2004, Journal of neuropathology and experimental neurology.

A prospective evaluation of phrenic nerve conduction in multifocal motor neuropathy and chronic inflammatory demyelinating polyneuropathy

R. Marthan, F. Macia, X. Ferrer, 2003, Muscle & nerve.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

I. Nelson, F. Chapon, I. Richard, 2018, European journal of neurology.

Charcot‐Marie‐Tooth disease type 1A: clinicopathological correlations in 24 patients

P. Latour, X. Ferrer, A. Vital, 2005, Journal of the peripheral nervous system : JPNS.

Crow–Fukase (POEMS) syndrome: a study of peripheral nerve biopsy in five new cases

K. Petry, J. Viallard, J. Pellegrin, 2003, Journal of the peripheral nervous system : JPNS.

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia

K. Claeys, P. Laforêt, B. Eymard, 2009, Neuromuscular Disorders.

A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations

F. Tison, P. Latour, C. Goizet, 2012, Neuromuscular Disorders.

Serum IgG antibodies to P0 dimer and 35 kDa P0 related protein in neuropathy associated with monoclonal gammopathy

K. Petry, X. Ferrer, A. Vital, 2003, Journal of neurology, neurosurgery, and psychiatry.

[Neurologic manifestations of Lyme disease. Apropos of 25 cases].

J. Ragnaud, P. Morlat, J. Orgogozo, 1995, La Revue de medecine interne.

Chronic inflammatory demyelinating polyneuropathy: immunopathological and ultrastructural study of peripheral nerve biopsy in 42 cases.

K. Petry, J. Orgogozo, M. Barat, 2000, Ultrastructural pathology.

Levels of α1-Antitrypsin in Plasma and Risk of Spontaneous Cervical Artery Dissections A Case-Control Study

M. Millán, X. Ferrer, N. Vila, 2003 .

Severe axonal polyneuropathy with onset in the postpartum period

J. Mazaux, M. Dupon, M. Barat, 1994, Acta neurologica Scandinavica.

Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature

J. Orgogozo, M. Martin-Négrier, X. Ferrer, 2002, Journal of the peripheral nervous system : JPNS.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

A. Beggs, N. Romero, Hanns Lochmüller, 2005, Nature genetics.

Ultrastructural mitochondrial modifications characteristic of mitofusin 2 mutations (CMT2A)

M. Martin-Négrier, P. Latour, X. Ferrer, 2009, Journal of the peripheral nervous system : JPNS.

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis

A. López de Munain, I. Illa, X. Ferrer, 2008, neurogenetics.

Histopathological features of X‐linked Charcot‐Marie‐Tooth disease in 8 patients from 6 families with different connexin32 mutations

K. Petry, P. Latour, C. Goizet, 2001, Journal of the peripheral nervous system : JPNS.

Malignant infiltration of peripheral nerves in the course of acute myelomonoblastic leukaemia: neuropathological study of two cases

X. Ferrer, A. Vital, C. Vital, 1993, Neuropathology and applied neurobiology.

Levels of alpha1-antitrypsin in plasma and risk of spontaneous cervical artery dissections: a case-control study.

M. Millán, X. Ferrer, N. Vila, 2003, Stroke.

Primary meningeal B lymphoma presenting as a subacute ascending polyradiculoneuropathy.

X. Ferrer, J. Julien, C. Vital, 1991, Journal of neurology, neurosurgery, and psychiatry.

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Adrian Danek, Nicholas W. Wood, Andrea H. Németh, 2001, Nature Genetics.

Uncompacted Myelin Lamellae in Peripheral Nerve Biopsy

K. Petry, X. Ferrer, A. Vital, 2003, Ultrastructural pathology.

Le syndrome POEMS (ou syndrome de Crow-Fukase)

X. Ferrer, A. Vital, C. Vital, 2004 .

A case of primary erythermalgia with encephalopathy

X. Ferrer, J. Seneschal, A. Taieb, 2009, Journal of Neurology.

Cavernous sinus syndrome due to lymphoma.

J. Drouillard, X. Ferrer, J. Julien, 1984, Journal of neurology, neurosurgery, and psychiatry.

Jaw closing spasm--a form of focal dystonia? An electrophysiological study.

X. Ferrer, J. Julien, J. Demotes-Mainard, 1989, Journal of neurology, neurosurgery, and psychiatry.

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

J. Emparanza, D. Figarella-Branger, C. Bönnemann, 2005, Brain : a journal of neurology.

Central nervous system disease in patients with macrophagic myofasciitis.

D. Ranoux, J. Degos, D. Figarella-Branger, 2001, Brain : a journal of neurology.

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

M. Cossée, M. Claustres, F. Leturcq, 2016, Journal of neuromuscular diseases.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

D. Orlikowski, L. Viollet, B. Eymard, 2010, Journal of Neurology.

Severe neonatal myasthenia due to maternal anti-MuSK antibodies

P. Laforêt, B. Eymard, L. Chatenoud, 2008, Neuromuscular Disorders.

Sarcoid neuropathy: clinico-pathological study of 4 new cases and review of the literature.

X. Ferrer, A. Vital, M. Canron, 2008, Clinical neuropathology.

[Autosomal dominant centronuclear myopathy].

X. Ferrer, J. Julien, C. Vital, 2020, Revue neurologique.

[Divry-Van Bogaert cortico-meningeal angiomatosis and Sneddon's syndrome. Nosological study. Apropos of 4 cases].

X. Ferrer, J. Julien, C. Vital, 1987, Revue neurologique.

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

M Farrall, A Danek, A. Monaco, 1997, American journal of human genetics.

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

S. Tezenas du Montcel, C. Duyckaerts, A. Durr, 2018, Brain : a journal of neurology.

Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene

P. Latour, X. Ferrer, A. Vital, 2001, Journal of neurology, neurosurgery, and psychiatry.

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

F. Magdinier, J. Pouget, N. Lévy, 2015, Orphanet Journal of Rare Diseases.

A severe congenital myasthenic syndrome with ” dropped head ” caused by novel MUSK mutations

B. Isidor, A. Magot, X. Ferrer, 2017 .

Muscle magnetic resonance imaging abnormalities in X‐linked myopathy with excessive autophagy

S. Mercier, Y. Péréon, B. Isidor, 2015, Muscle & nerve.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

F. Chapon, A. Geille, G. Bassez, 2016, PloS one.

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review

M. Martin-Négrier, X. Ferrer, C. Jardel, 2011, European journal of neurology.

[Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].

M. Martin-Négrier, X. Ferrer, A. Vital, 2010, Revue neurologique.

Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits

R. Petersen, P. Gambetti, X. Ferrer, 1998, Neuropathology and applied neurobiology.

Familial amyloid polyneuropathy associated with nodular lumbosacral radiculoplexopathy

X. Ferrer, A. Vital, G. Solé, 2012, Journal of the peripheral nervous system : JPNS.

Variable pathogenic potentials of mutations located in the desmin alpha‐helical domain

F. Chapon, M. Dalakas, T. Sejersen, 2006, Human mutation.

Multiple sclerosis: an overview.

X. Ferrer, J. Julien, 1989, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Minimal tissue damage after stimulation of the motor thalamus in a case of chorea-acanthocytosis

B Bioulac, P Burbaud, E. Cuny, 2002, Neurology.

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

F. Rivier, C. Béroud, F. Chapon, 2022, Orphanet Journal of Rare Diseases.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

R. Porcher, É. Marijon, A. Lazarus, 2019, Circulation.

[Post-radiotherapy anterior horn cell syndrome].

X. Ferrer, J. Julien, A. Lagueny, 1985, Revue neurologique.

Chorea-acanthocytosis: neuropathology of brain and peripheral nerve.

P. Burbaud, X. Ferrer, A. Vital, 2002, Clinical neuropathology.

La chorée-acanthocytose.

X. Ferrer, J. Julien, A. Lagueny, 1990 .

Dehydroepiandrosterone for myotonic dystrophy type 1

R. Porcher, D. Annane, S. Chevret, 2008, Neurology.

Parkinsonism in a patient with Leber hereditary optic neuropathy (LHON).

M. Martin-Négrier, X. Ferrer, A. Vital, 2015, Revue neurologique.

Severe Charcot‐Marie‐Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation

C. Goizet, X. Ferrer, A. Vital, 2013, Journal of the peripheral nervous system : JPNS.

Involvement of respiratory muscles in adult‐onset dystonia: A clinical and electrophysiological study

G. L. Masson, P. Burbaud, X. Ferrer, 1995, Movement disorders : official journal of the Movement Disorder Society.

Hereditary motor and sensory neuropathy type II with axonal lesions

X. Ferrer, J. Julien, C. Vital, 1988, Journal of Neurology.

[Myopathy in adults caused by acid maltase deficiency. A trial of treatment with high protein diet].

C. Desnuelle, X. Ferrer, T. Levade, 1992, La Revue de medecine interne.

Chronic relapsing idiopathic polyneuropathy with primary axonal lesions.

X. Ferrer, J. Julien, C. Vital, 1989, Journal of neurology, neurosurgery, and psychiatry.

[Inclusion body myositis associated with sacroidosis: a report of 3 cases].

X. Ferrer, C. Vital, A. Lagueny, 2001, Annales de pathologie.

Inflammatory demyelination in a patient with CMT1A

K. Petry, P. Latour, X. Ferrer, 2003, Muscle & nerve.

Neuropathie a tomacula. Etude electrophysiologique

X. Ferrer, A. Vital, J. Julien, 1985 .

Idiopathic CD4+ T-cell lymphocytopenia and subacute inflammatory demyelinating polyradiculoneuropathy

X. Ferrer, J. Julien, C. Vital, 1995, Neurology.

Prion disease with octapeptide repeat insertion.

X. Ferrer, A. Vital, J. Julien, 1999, Clinical and experimental pathology.

Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene

C. Goizet, X. Ferrer, A. Vital, 2005, Neuromuscular Disorders.

Chronic inflammatory demyelinating polyneuropathy caused by HIV infection in a patient with asymptomatic CMT 1A

P. Latour, X. Ferrer, A. Vital, 2000, Journal of the peripheral nervous system : JPNS.

[Proximal myotonial myopathy (PROMM): clinical and histology study].

G. Bassez, J. Pouget, P. Laforêt, 2001, Revue neurologique.

[Neurogenic muscular hypertrophy. Association with abnormal electrophysiological activities].

X. Ferrer, J. Julien, C. Vital, 1987, Revue neurologique.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.