I. Illa

发表

Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.

B. Flix, C. de la Torre, J. Castillo, 2013, The international journal of biochemistry & cell biology.

Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy

Luis M. Escudero, X. Navarro, I. Illa, 2018, Cell Death & Disease.

I. Illa, E. Gallardo, J. Díaz-Manera, 2015, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg

R. Blesa, G. Nogales-Gadea, R. Rojas-García, 2014, Neurology.

Atypical phenotypes in titinopathies explained by second titin mutations

I. Richard, B. Eymard, R. Rojas-García, 2014, Annals of neurology.

Predicting Outcome in Guillain-Barré Syndrome

Hester F. Lingsma, G. Marfia, T. Feasby, 2021, Neurology.

European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of paraproteinaemic demyelinating neuropathies: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society *

J. Pollard, C. Sommer, P. Bouche, 2006, European journal of neurology.

European Federation of Neurological Societies/Peripheral Nerve Society Guideline * on management of paraproteinemic demyelinating neuropathies. Report of a Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society – first revision

Belgium, Canada., Australia., 2010, Journal of the peripheral nervous system : JPNS.

European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of multifocal motor neuropathy. Report of a Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society – first revision

P. Bergh, J. M., J. Pollard, 2010, Journal of the peripheral nervous system : JPNS.

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity

E. Zwet, J. Verschuuren, R. Rojas-García, 2016, Journal of Neuroimmunology.

The expanding field of IgG4‐mediated neurological autoimmune disorders

J. Verschuuren, S. M. van der Maarel, I. Illa, 2015, European journal of neurology.

Myasthenia gravis and the neuromuscular junction

I. Illa, L. Querol, 2013, Current opinion in neurology.

Cortactin autoantibodies in myasthenia gravis.

R. Balice-Gordon, J. Verschuuren, R. Rojas-García, 2014, Autoimmunity reviews.

Forced vital capacity deterioration in amyotrophic lateral sclerosis has an inflexion point

P. Casán, J. Martí-Fàbregas, I. Illa, 1996 .

Randomized controlled trial of intravenous immunoglobulin versus oral prednisolone in chronic inflammatory demyelinating polyradiculoneuropathy

G. Comi, M. Dalakas, H. Willison, 2001, Annals of neurology.

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

I. Richard, B. Eymard, I. Illa, 2008, Neuromuscular Disorders.

Myasthenia Gravis Treatment Updates

I. Illa, E. Gallardo, E. Cortés‐Vicente, 2020, Current Treatment Options in Neurology.

Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial

A. Marx, S. Muley, R. Conwit, 2019, The Lancet Neurology.

Guidelines for treatment of autoimmune neuromuscular transmission disorders

N. Gilhus, J. Verschuuren, I. Illa, 2006, European journal of neurology.

Autoimmune Neuromuscular Transmission Disorders

N. Gilhus, J. Verschuuren, I. Illa, 2010 .

Treatment strategies for myasthenia gravis

R. Rojas-García, I. Illa, J. Díaz-Manera, 2009, Expert opinion on pharmacotherapy.

IVIg in myasthenia gravis, Lambert Eaton myasthenic syndrome and inflammatory myopathies: current status

I. Illa, 2005, Journal of Neurology.

Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients

R. Rojas-García, I. Illa, E. Gallardo, 2001, Neurology.

Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy

F. Zimprich, R. Rojas-García, I. Illa, 2021, Neurology: Neuroimmunology & Neuroinflammation.

EFNS/PNS CIDP GUIDELINES European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society - F

P. Bergh, J. Pollard, C. Koski, 2010 .

European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society — First Revision

P. Bergh, J. Pollard, C. Sommer, 2010, European journal of neurology.

A controlled trial of high-dose intravenous immune globulin infusions as treatment for dermatomyositis.

J. Dambrosia, M. Dalakas, I. Illa, 1993, The New England journal of medicine.

Polymyositis inpatients infected with human T‐cell leukemia virus type I: The role of the virus in the cause of the disease

M. Dalakas, I. Illa, M. Dalakas, 1994, Annals of neurology.

I. Illa, M. Monzón, M. Dalakas, 1994 .

Critical Illness Polyneuropathy and Critical Illness Myopathy

I. Illa, C. Serrano-Munuera, C. Serrano‐Munuera, 2003 .

Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles

I. Illa, J. Sanchez-González, J. Díaz-Manera, 2020, Journal of cachexia, sarcopenia and muscle.

European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy *

R. Hughes, J. Pollard, C. Sommer, 2006, European journal of neurology.

International Consensus Guidance for Management of Myasthenia Gravis

Jacqueline Palace, M. Benatar, D. Richman, 2020, Neurology.

Role of Thrombospondin 1 in Macrophage Inflammation in Dysferlin Myopathy

I. Illa, E. Gallardo, R. Domínguez‐Perles, 2010, Journal of neuropathology and experimental neurology.

Thalamic Hemorrhage. A Study of 23 Patients With Diagnosis by Computed Tomography

I. Illa, L. Barraquer-Bordas, A. Escartín, 1981, Stroke.

Paraproteinaemic Demyelinating Neuropathies

P. Bergh, J. Pollard, C. Sommer, 2010 .

Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy.

I. Illa, E. Gallardo, P. Piñol-Jurado, 2017, The American journal of pathology.

The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo

G. Cossu, R. Rojas-García, I. Illa, 2012, The Journal of pathology.

McLeod syndrome is a new cause of axial muscle weakness

J. Pagonabarraga, I. Illa, E. Gallardo, 2018, Muscle & nerve.

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

I. Illa, E. Gallardo, V. Straub, 2018, Neuromuscular Disorders.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

C. Horlings, R. Carlier, E. Ricci, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

A new phenotype of dysferlinopathy with congenital onset

C. Paradas, I. Illa, E. Gallardo, 2009, Neuromuscular Disorders.

Trunk muscle involvement in late-onset Pompe disease: Study of thirty patients

A. Pichiecchio, I. Illa, J. Díaz-Manera, 2012, Neuromuscular Disorders.

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

J. Clarimón, D. Gómez-Andrés, R. Rojas-García, 2016, Neuromuscular Disorders.

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

C. Paradas, R. Rojas-García, I. Illa, 2010, Neurology.

PDGF-BB serum levels are decreased in adult onset Pompe patients

Josep Maria Salanova Grau, I. Rojas-Marcos, M. Mayos, 2019, Scientific Reports.

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study

I. Illa, E. Gallardo, J. Sanchez-González, 2018, Scientific Reports.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

A. L. de Munain, R. Rojas-García, R. Sivera, 2017, Scientific Reports.

Immune-mediated mechanisms and immune activation of fibroblasts in the pathogenesis of eosinophilia-myalgia syndrome induced by L-tryptophan.

I. Illa, M. Dalakas, S. Dinsmore, 1993, Human pathology.

Autoantibodies against the H1(0) subtype of histone H1.

I. Illa, C. Juárez, J. L. Vila, 1987, Clinical immunology and immunopathology.

Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A

Iñaki Inza, Rubén Armañanzas, Ana Cabello, 2008, PloS one.

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria

J. Clarimón, J. Marín-Lahoz, R. Rojas-García, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings

M. Barceló, M. Baiget, E. Tizzano, 2005, Journal of Neurology.

BNIP3 is involved in muscle fiber atrophy in Late-Onset Pompe Disease patients.

B. Schoser, E. Rivas, C. Paradas, 2022, The American journal of pathology.

Cathepsins Are Upregulated by IFN‐γ/STAT1 in Human Muscle Culture: A Possible Active Factor in Dermatomyositis

I. Illa, E. Gallardo, I. de Andres, 2001, Journal of neuropathology and experimental neurology.

Dietary influences over proliferating cell nuclear antigen expression in the locust midgut

S. J. Simpson, I. Illa, L. Montuenga, 2004, Journal of Experimental Biology.

Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases

R. Rojas-García, I. Illa, E. Gallardo, 2018, Journal of neuropathology and experimental neurology.

Paraproteinemic neuropathies.

R. Rojas-García, I. Illa, E. Gallardo, 2013, Presse medicale.

Dysferlin Regulates Cell Adhesion in Human Monocytes*

R. Toes, R. Frants, S. M. van der Maarel, 2013, The Journal of Biological Chemistry.

1 Dysferlin regulates cell adhesion in human monocytes

A. Morrée, R. Frants, B. Flix, 2013 .

Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report

F. Villarroya, E. García-Arumí, A. Andreu, 2008, Journal of medical case reports.

Myasthenia gravis

X. Bonfill, I. Illa, I. Bolíbar, 2003, Neurology.

Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia

K. Strauss, S. Markx, E. Peles, 2011, Annals of neurology.

Anti-Neurofascin-155 IgG4 antibodies prevent paranodal complex formation in vivo.

J. Vallat, J. Devaux, I. Illa, 2019, The Journal of clinical investigation.

Effect of intraventricular injection of an anti-Purkinje cell antibody (anti-Yo) in a guinea pig model

I. Illa, C. Juárez, F. Graus, 1991, Journal of the Neurological Sciences.

Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values

John M Buermann, G. Marfia, H. Hartung, 2022, Clinical Neurophysiology.

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

J. Clarimón, R. Rojas-García, I. Illa, 2018, bioRxiv.

Paranodal and other autoantibodies in chronic inflammatory neuropathies.

I. Illa, L. Querol, 2015, Current opinion in neurology.

Inflammatory Myopathy with Abundant Macrophages (IMAM): A Condition Sharing Similarities with Cytophagic Histiocytic Panniculitis and Distinct from Macrophagic Myofasciitis

G. Bassez, F. Authier, I. Illa, 2003, Journal of neuropathology and experimental neurology.

A novel, blood‐based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy

I. Illa, E. Gallardo, N. de Luna, 2002, Annals of neurology.

Severe Guillain‐Barré syndrome: sorting out the pathological hallmark in an electrophysiological axonal case

M. Berciano, I. Illa, J. Berciano, 2009, Journal of the peripheral nervous system : JPNS.

Acute axonal Guillain‐Barré syndrome with IgG antibodies against motor axons following parenteral gangliosides

Josep Maria Salanova Grau, M. Dalakas, I. Illa, 1995, Annals of neurology.

Fulminant Guillain–Barré Syndrome with universal inexcitability of peripheral nerves: A clinicopathological study

M. Berciano, I. Illa, J. Berciano, 1997, Muscle & nerve.

Chronic neuropathy with IgM anti-ganglioside antibodies: Lack of long term response to rituximab

R. Rojas-García, I. Illa, E. Gallardo, 2003, Neurology.

A randomised controlled trial of intravenous immunoglobulin in IgM paraprotein associated demyelinating neuropathy

R. Hughes, G. Comi, H. Willison, 2002, Journal of Neurology.

Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy

R. Rojas-García, I. Illa, J. Díaz-Manera, 2019, Scientific Reports.

Response to comment on European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy

R. Hughes, J. Pollard, C. Sommer, 2006 .

European Federation of Neurological Societies/Peripheral Nerve Society Guideline * on management of chronic inflammatory demyelinating polyradiculoneuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society

R. Hughes, P. Bergh, J. Pollard, 2005, Journal of the peripheral nervous system : JPNS.

Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies

R. Rojas-García, I. Illa, E. Gallardo, 2018, Annals of clinical and translational neurology.

PERIPHERAL NEUROPATHIES: Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications

J. Devaux, R. Rojas-García, I. Illa, 2017 .

Anti‐ganglioside antibodies and clinical outcome of patients with Guillain–Barré Syndrome in northeast Brazil

R. Guerrant, I. Illa, J. W. Queiroz, 2003, Acta neurologica Scandinavica.

The absence of survival motor neuron 2 gene may play a role in multifocal motor neuropathy

M. Barceló, M. Baiget, E. Tizzano, 2002, Neurology.

Head and voice tremor improving with immunotherapy in an anti‐NF155 positive CIDP patient

I. Illa, L. Querol, M. A. López-Pérez, 2018, Annals of clinical and translational neurology.

European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society

J. Pollard, C. Sommer, P. Bouche, 2006, European journal of neurology.

Chronic sensorimotor polyradiculopathy with antibodies to P2: An electrophysiological and immunoproteomic analysis

R. Rojas-García, C. de la Torre, I. Illa, 2008, Muscle & nerve.

Peripheral Neuropathy Associated with Anti-GM2 Ganglioside Antibodies: Clinical and Immunopathological Studies

H. Willison, I. Illa, E. Gallardo, 2000, Autoimmunity.

Myasthenia gravis: descriptive analysis of life‐threatening events in a recent nationwide registry

I. Jericó, R. Rojas-García, I. Illa, 2015, European journal of neurology.

HIV-associated polymyositis with life-threatening myocardial and esophageal involvement.

I. Illa, P. Clave, P. Domingo, 1999, Archives of Internal Medicine.

Specific Contactin N-Glycans Are Implicated in Neurofascin Binding and Autoimmune Targeting in Peripheral Neuropathies*

G. Nogales-Gadea, Marilyne Labasque, C. Faivre-Sarrailh, 2014, The Journal of Biological Chemistry.

Downregulation of miR-335-5P in Amyotrophic Lateral Sclerosis Can Contribute to Neuronal Mitochondrial Dysfunction and Apoptosis

J. Clarimón, A. Lleó, I. Illán-Gala, 2020, Scientific Reports.

Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age

A. Al-Chalabi, R. Rojas-García, I. Illa, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Symptomatic dysferlin gene mutation carriers: Characterization of two cases

C. Paradas, R. Rojas-García, I. Illa, 2007, Neurology.

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

C. Paradas, R. Rojas-García, I. Illa, 2007, Neuromuscular Disorders.

Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy.

C. Sommer, F. Zimprich, W. Löscher, 2021, Brain : a journal of neurology.

Contactin-1 IgG4 antibodies cause paranode dismantling and conduction defects.

J. Devaux, I. Illa, L. Querol, 2016, Brain : a journal of neurology.

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy

G. Nogales-Gadea, J. Devaux, C. Faivre-Sarrailh, 2017, Scientific Reports.

Mitochondrial myopathy caused by long-term zidovudine therapy.

M. Dalakas, J. Griffin, G. Pezeshkpour, 1990, The New England journal of medicine.

Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy

N. Yuki, J. Devaux, A. Berardinelli, 2017, Brain : a journal of neurology.

Intramuscular injections and vaccine-associated poliomyelitis.

I. Illa, M. Dalakas, M. Leon‐Monzon, 1995, The New England journal of medicine.

Caveats and Pitfalls of SOX1 Autoantibody Testing With a Commercial Line Blot Assay in Paraneoplastic Neurological Investigations

I. Illa, E. Martinez-Hernandez, J. Dalmau, 2019, Front. Immunol..

Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients

G. Faulkner, C. de la Torre, I. Illa, 2009, Proteomics. Clinical applications.

p70 S6 kinase activation is not required for insulin-like growth factor-induced differentiation of rat, mouse, or human skeletal muscle cells.

M. Palacín, A. Zorzano, X. Testar, 1998, Endocrinology.

Steady remission of scleromyxedema 3 years after autologous stem cell transplantation: an in vivo and in vitro study.

R. Blesa, R. Rojas-García, C. de la Torre, 2006, Blood.

Expression of Poliovirus Receptor in Human Spinal Cord and Muscle

M. Dalakas, I. Illa, M. Dalakas, 1995, Annals of the New York Academy of Sciences.

Antidisialosyl antibodies in chronic idiopathic ataxic neuropathy

Josep Maria Salanova Grau, J. Grau, R. Rojas-García, 2002, Journal of Neurology.

Eculizumab improves fatigue in refractory generalized myasthenia gravis

K. Patra, P. van Damme, M. Benatar, 2019, Quality of Life Research.

Neuromuscular dysfunction in adult growth hormone deficiency

R. Casamitjana, E. Ortega, R. Rojas-García, 2003, Clinical endocrinology.

Immunocytochemical and virological characteristics of hiv‐associated inflammatory myopathies: Similarities with seronegative polymyositis

M. Dalakas, A. Nath, I. Illa, 1991, Annals of neurology.

Treatment strategies for myasthenia gravis: an update

I. Illa, J. Díaz-Manera, R. Rojas Garcia, 2012, Expert opinion on pharmacotherapy.

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease

A. López de Munain, I. Illa, J. Díaz-Manera, 2020 .

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

I. Rojas-Marcos, M. Mayos, A. López de Munain, 2019, Molecular genetics and metabolism.

Oral fingolimod for chronic inflammatory demyelinating polyradiculoneuropathy (FORCIDP Trial): a double-blind, multicentre, randomised controlled trial

G. L. Masson, C. Ervin, H. Hartung, 2018, The Lancet Neurology.

Absence of Dysferlin Alters Myogenin Expression and Delays Human Muscle Differentiation “in Vitro”*

J. García-Verdugo, R. Rojas-García, C. de la Torre, 2006, Journal of Biological Chemistry.

Guidance for the management of myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) during the COVID-19 pandemic

H. Wiendl, J. Vissing, R. Mantegazza, 2020, Journal of the Neurological Sciences.

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.

Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

C. Ortez, I. Illa, E. Gallardo, 2021, Frontiers in Neurology.

Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis

M. Benatar, R. Barohn, J. Kissel, 2019, Muscle & nerve.

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study.

G. L. Masson, W. Löscher, P. Vermersch, 2017, The Lancet. Neurology.

IgG4 Valency Modulates the Pathogenicity of Anti–Neurofascin-155 IgG4 in Autoimmune Nodopathy

J. Devaux, I. Illa, L. Querol, 2022, Neurology: Neuroimmunology & Neuroinflammation.

Post-polio syndrome: concepts in clinical diagnosis, pathogenesis, and etiology.

M. Dalakas, I. Illa, 1991, Advances in neurology.

Clinical guidelines for late-onset Pompe disease.

A. López de Munain, S. Pascual-Pascual, I. Illa, 2012, Revista de neurologia.

Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes

I. Illa, E. Gallardo, X. Suárez-Calvet, 2019, BMC Musculoskeletal Disorders.

172nd ENMC International Workshop: Dysferlinopathies 29–31 January 2010, Naarden, The Netherlands

K. Bushby, N. Lévy, M. Krahn, 2011, Neuromuscular Disorders.

Bone marrow transplantation in dysferlin-deficient mice results in a mild functional improvement.

X. Navarro, R. Mancuso, J. Barquinero, 2013, Stem cells and development.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

J. Beckmann, K. Bushby, J. Oeltjen, 2001, Neurology.

Ultrastructural characteristics and DNA immunocytochemistry in human immunodeficiency virus and zidovudine-associated myopathies.

G. Pezeshkpour, I. Illa, M. Dalakas, 1991, Human pathology.

Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene

M. Baiget, E. Tizzano, I. Illa, 1997, Neurology.

In Vivo and In Vitro Dysferlin Expression in Human Muscle Satellite Cells

I. Illa, E. Gallardo, 2004, Journal of neuropathology and experimental neurology.

Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype

M. Baiget, A. Lasa, R. Rojas-García, 2001, Annals of neurology.

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.

E. García-Arumí, A. Andreu, I. Illa, 2011, Mitochondrion.

Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies

R. Rojas-García, I. Illa, E. Gallardo, 2012, Journal of the peripheral nervous system : JPNS.

Antiganglioside antibodies in acute self-limiting ataxic neuropathy: incidence and significance

H. Willison, I. Illa, E. Gallardo, 2001, Journal of Neuroimmunology.

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis

I. Illa, E. Gallardo, X. Suárez-Calvet, 2017, Scientific Reports.

RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis

J. Grau, R. Rojas-García, I. Illa, 2017, Arthritis Research & Therapy.

Comment to “Role of Toll-like receptors and retinoic acid inducible gene I in endogenous production of type I interferon in dermatomyositis”

I. Illa, E. Gallardo, X. Suárez-Calvet, 2016, Journal of Neuroimmunology.

Altered RIG‐I/DDX58‐mediated innate immunity in dermatomyositis

G. Nogales-Gadea, R. Rojas-García, I. Illa, 2014, The Journal of pathology.

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

H. Mandel, S. Krähenbühl, A. Gratwohl, 2011, Bone Marrow Transplantation.

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

H. Mandel, P. Chinnery, A. Gratwohl, 2015, Brain : a journal of neurology.

Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15

E. Marchioni, L. Benedetti, J. Devaux, 2017, Journal of Neuroinflammation.

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Z. Lukacs, J. Arpa, I. Illa, 2015, Neuromuscular Disorders.

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.

A. López de Munain, C. Paradas, I. Jericó, 2020, Neurology.

Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene

R. Rojas-García, I. Illa, E. Gallardo, 2014, European journal of neurology.

Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis

R. Rojas-García, C. Zamora, I. Illa, 2020, Neurology: Neuroimmunology & Neuroinflammation.

International consensus guidance for management of myasthenia gravis

M. Benatar, D. Richman, N. Gilhus, 2016, Neurology.

Segregation of leading-edge and uropod components into specific lipid rafts during T cell polarization

C. Martínez-A, A. Bernad, I. Illa, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Acute bulbar weakness: Thyrotoxicosis or myasthenia gravis?

A. Lleó, I. Illa, C. Serrano, 1999, Annals of neurology.

Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

S. M. van der Maarel, R. Rojas-García, B. Flix, 2011, PloS one.

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Pieter J. de Jong, Saeed Bohlega, Jing Liu, 1998, Nature Genetics.

Limb-girdle muscular dystrophy 2A.

A. Sáenz, I. Illa, E. Gallardo, 2011, Handbook of clinical neurology.

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

M. Baiget, F. Calafell, A. Lasa, 2005, Archives of neurology.

Distal myopathies

I. Illa, Isabel Illa, 2000, Journal of Neurology.

Immunocytochemical and virological characteristics of HIV-associated inflammatory myopathies: similarities with seronegative polymyositis.

A. Nath, I. Illa, M. Dalakas, 1991, Annals of neurology.

Infusion of platelets transiently reduces nucleoside overload in MNGIE

Y. Anikster, B. Weiss, A. Andreu, 2006, Neurology.

Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes

M. Hegde, A. Ankala, I. Illa, 2014, Human mutation.

X‐linked Emery–Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

C. Paradas, I. Illa, E. Gallardo, 2005, Muscle & nerve.

Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies

J. Jaiswal, A. Bigot, V. Mouly, 2021, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins

R. Rojas-García, I. Illa, E. Gallardo, 2015, Neurology: Neuroimmunology & Neuroinflammation.

J. Pollard, C. Sommer, P. Bouche, 2010, European journal of neurology.

Urokinase-dependent plasminogen activation is required for efficient skeletal muscle regeneration in vivo.

P. Carmeliet, P. Muñoz-Cánoves, S. Hughes, 2001, Blood.

Histological study of the effects of cypermethrin on liver and kidney tissues of mice model.

M. Mamun, I. Illa, Z. Ferdousi, 2014 .

Regenerating and denervated human muscle fibers and satellite cells express neural cell adhesion molecule recognized by monoclonal antibodies to natural killer cells

M. Dalakas, I. Illa, M. Leon‐Monzon, 1992, Annals of neurology.

Enrichment of serum IgG4 in MuSK myasthenia gravis patients

D. Richman, J. Verschuuren, A. Punga, 2022, Journal of Neuroimmunology.

Long-lasting treatment effect of rituximab in MuSK myasthenia

J. Verschuuren, R. Rojas-García, I. Illa, 2012, Neurology.

COVID-19-associated risks and effects in myasthenia gravis (CARE-MG)

H. Wiendl, M. Maas, J. Vissing, 2020, The Lancet Neurology.

Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients

R. Blesa, R. Rojas-García, I. Illa, 2008, Journal of Neuroimmunology.

Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis

R. Rojas-García, I. Illa, E. Gallardo, 2022, Neurology: Neuroimmunology & Neuroinflammation.

Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy.

J. Bruix, R. Blesa, R. Cervera, 1988, Gut.

Regional variation of Guillain-Barré syndrome

G. Marfia, H. Hartung, S. Ajroud‐Driss, 2018, Brain : a journal of neurology.

Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients

A. Lleó, I. Rojas-Marcos, R. Rojas-García, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

A. L. de Munain, R. Rojas-García, R. Sivera, 2017, Scientific Reports.

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype

O. Combarros, J. Infante, I. Illa, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome

R. Blesa, R. Rojas-García, I. Illa, 2007, Nature Clinical Practice Neurology.

Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies

J. Vissing, G. Tasca, I. Illa, 2020, Neurology.

Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association.

O. Combarros, R. Rojas-García, I. Illa, 2005, Archives of neurology.

Genotype–phenotype correlations in recessive titinopathies

M. Pane, E. Mercuri, F. Muntoni, 2020, Genetics in Medicine.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

I. Illa, E. Gallardo, J. Díaz-Manera, 2016, Journal of neuromuscular diseases.

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

M. Mayos, I. Illa, E. Gallardo, 2016, PloS one.

Antibodies against disialosyl and terminal NeuNAc(α2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy

R. Rojas-García, I. Illa, E. Gallardo, 2008, Journal of Neurology.

Inclusion body myositis and paraproteinemia: Incidence and immunopathologic correlations

M. Dalakas, I. Illa, E. Gallardo, 1997, Annals of neurology.

Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(α2–3)Gal

R. Rojas-García, I. Illa, E. Gallardo, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

A novel antiganglioside specificity against terminal NeuNAc(alfa 2–3)Gal in acute bulbar palsy

R. Blesa, M. Martinez-Lage, J. Martí-Vilalta, 2006, Journal of Neuroimmunology.

Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis

I. Illa, E. Gallardo, X. Suárez-Calvet, 2023, Neurology: Neuroimmunology & Neuroinflammation.

The impact of rituximab infusion protocol on the long‐term outcome in anti‐MuSK myasthenia gravis

R. Rojas-García, I. Illa, J. Díaz-Manera, 2018, Annals of clinical and translational neurology.

Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study

P. van Damme, M. Benatar, F. Piehl, 2019, Journal of the Neurological Sciences.

Utility of anti‐Hu antibodies in the diagnosis of paraneoplastic sensory neuropathy

J. Molinuevo, I. Illa, F. Graus, 1998, Annals of neurology.

Clinical characteristics and outcomes of thymoma‐associated myasthenia gravis

A. López de Munain, C. Paradas, I. Jericó, 2021, European journal of neurology.

[Antiganglioside antibodies: when, which and for what].

J. Grau, R. Rojas-García, I. Illa, 2001, Neurología.

Drug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

A. López de Munain, C. Paradas, I. Jericó, 2022, Annals of clinical and translational neurology.

Analysis of Serum miRNA Profiles of Myasthenia Gravis Patients

G. Nogales-Gadea, R. Rojas-García, I. Illa, 2014, PloS one.

JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis

W. Stenzel, G. Butler-Browne, V. Mouly, 2018, Brain : a journal of neurology.

Identification of Novel GH-regulated Genes in C2C12 Cells

J. Bernal, A. Zorzano, I. Illa, 2011, Hormone and Metabolic Research.

IgM monoclonal antibody against terminal moiety of GM2, GalNAc-GD1a and GalNAc-GM1b from a pure motor chronic demyelinating polyneuropathy patient: effects on neurotransmitter release

I. Illa, E. Gallardo, J. Aubry, 2001, Journal of Neuroimmunology.

Clinical status of motoneuron disease does not correlate with serum neurotoxicity on cultured neurons

J. Martí-Fàbregas, R. Soler, I. Illa, 1992, Acta neurologica Scandinavica.

Long‐term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: A retrospective study

C. Paradas, R. Rojas-García, R. Sivera, 2013, Muscle & nerve.

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

K. Bushby, F. Muntoni, A. Schapira, 2013, Human mutation.

Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases.

J. Rosell, M. Baiget, I. Illa, 1996 .

Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases

J. Rosell, M. Baiget, I. Illa, 1996, Neuromuscular Disorders.

cases . and molecular studies of three unrelated Homozygous myotonic dystrophy : clinical

J. Rosell, M. Baiget, I. Illa, 2022 .

Respiratory function deterioration is not time‐linked with upper‐limb onset in amyotrophic lateral sclerosis

J. Martí-Fàbregas, I. Illa, J. Sanchís, 1995, Acta neurologica Scandinavica.

Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.

R. Rojas-García, I. Illa, E. Gallardo, 2016, JAMA neurology.

Signal transducer and activator of transcription 1 in human muscle: implications in inflammatory myopathies.

I. Illa, E. Gallardo, C. Juárez, 1997, The American journal of pathology.

Cost-Effectiveness Analysis of Intravenous Immunoglobulin and Prednisolone for Chronic Inflammatory Demyelinating Polyradiculoneuropathy ( CIDP )

G. Comi, M. Dalakas, P. Bergh, 2005 .

ARTHUR ASBURY LECTURE: Chronic inflammatory demyelinating polyradiculoneuropathy: clinical aspects and new animal models of auto‐immunity to nodal components

I. Illa, 2017, Journal of the peripheral nervous system : JPNS.

Increased in vitro uptake of the complement C3b in the serum of patients with Guillain-Barré syndrome, myasthenia gravis and dermatomyositis

M. Dalakas, I. Illa, M. Basta, 1996, Journal of Neuroimmunology.

Autoantibody screening in Guillain–Barré syndrome

I. Rojas-Marcos, R. Rojas-García, I. Illa, 2021, medRxiv.

Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15

E. Marchioni, L. Benedetti, J. Devaux, 2017, Journal of Neuroinflammation.

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy

G. Nogales-Gadea, J. Devaux, C. Faivre-Sarrailh, 2017, Scientific Reports.

Author Correction: Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy

R. Rojas-García, I. Illa, J. Díaz-Manera, 2019, Scientific Reports.

Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia

A. Al-Chalabi, J. Clarimón, A. Lleó, 2018, Dementia and Geriatric Cognitive Disorders.

Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy

Y. Torrente, G. Cossu, I. Illa, 2010, Cell Death and Disease.

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering

R. Rojas-García, I. Illa, V. Straub, 2021, Neuromuscular Disorders.

‘Minimal symptom expression’ in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab

P. van Damme, M. Benatar, F. Piehl, 2020, Journal of Neurology.

[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].

J. Infante, R. Sivera, I. Illa, 2012, Neurologia.

Myasthenia Gravis: A Disease of the Very Old

I. Illa, I. Bolíbar, P. Roura-Poch, 2014, Journal of the American Geriatrics Society.

Diagnostic utility of cortactin antibodies in myasthenia gravis

I. Illa, E. Gallardo, E. Cortés‐Vicente, 2018, Annals of the New York Academy of Sciences.

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene

E. Gallardo, I. Férnandez-Cadenas, J. Arenas, 2005, Neuroscience Letters.

Sensory neuropathy as the initial manifestation of primary biliary cirrhosis.

I. Illa, J. Enríquez, F. Graus, 1989, Journal of neurology, neurosurgery, and psychiatry.

Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy

Luis M. Escudero, X. Navarro, I. Illa, 2018, Cell Death & Disease.

[Predictive factors of the response to treatment of myasthenia gravis with prednisone].

I. Illa, J. Pradas, 1990, Neurologia.

Common variable immunodeficiency and inclusion body myositis: A distinct myopathy mediated by natural killer cells

M. Dalakas, I. Illa, M C Dalakas, 1995, Annals of neurology.

Myasthenia gravis coincident with papillary thyroid carcinoma: absent expression of the α-subunit of the acetylcholine receptor in the tumour

I. Illa, E. Gallardo, F. Graus, 1995, Journal of Neurology.

Role of the Muscle in Acute Poliomyelitis Infection

M. Dalakas, I. Illa, M. Agboatwalla, 1995, Annals of the New York Academy of Sciences.

[Prognostic factors in amyotrophic lateral sclerosis].

J. Martí-Fàbregas, I. Illa, J. Pradas, 1996, Neurologia.

Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patient

R. Rojas-García, I. Illa, E. Gallardo, 2009, Muscle & nerve.

Unique post-exercise electrophysiological test results in a new Andersen–Tawil syndrome mutation

J. Clarimón, I. Illa, J. Díaz-Manera, 2011, Clinical Neurophysiology.

Severe exacerbation of Andersen–Tawil syndrome secondary to thyrotoxicosis

R. Rojas-García, I. Illa, E. Gallardo, 2014, Journal of Human Genetics.

PDGF-BB serum levels are decreased in adult onset Pompe patients

Josep Maria Salanova Grau, I. Rojas-Marcos, M. Mayos, 2019, Scientific Reports.

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study

I. Illa, E. Gallardo, J. Sanchez-González, 2018, Scientific Reports.

Downregulation of miR-335-5P in Amyotrophic Lateral Sclerosis Can Contribute to Neuronal Mitochondrial Dysfunction and Apoptosis

J. Clarimón, A. Lleó, I. Illán-Gala, 2020, Scientific Reports.

Diagnosis and Management of Diabetic Peripheral Neuropathy

I. Illa, 1999, European Neurology.

1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.

C. Paradas, I. Gich, R. Rojas-García, 2012, Molecular therapy : the journal of the American Society of Gene Therapy.

Prevalencia de miastenia gravis en la comarca de Osona (Barcelona, Cataluña)

I. Illa, E. Bufill, J. Aragonés, 2017 .

Effect of monovalency on anti-contactin-1 IgG4

J. Devaux, I. Illa, L. Querol, 2023, Frontiers in Immunology.

Author Correction: Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy

R. Rojas-García, I. Illa, J. Díaz-Manera, 2019, Scientific Reports.

Anti-titin antibodies are not associated with a specific thymoma histology

R. Hohlfeld, T. Kirchner, R. Voltz, 2003, Journal of Neurology Neurosurgery & Psychiatry.

G.P.10.02 Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients

G. Faulkner, C. de la Torre, I. Illa, 2008, Neuromuscular Disorders.

[Mesencephalic haemorrhages: a CT scan study of 3 cases (author's transl)].

J. Grau, I. Illa, A. Escartín, 1982, Revue neurologique.

Antibodies to contactin‐1 in chronic inflammatory demyelinating polyneuropathy

G. Nogales-Gadea, R. Rojas-García, I. Illa, 2013, Annals of neurology.

Identification of serum microRNAs as potential biomarkers in Pompe disease

I. Illa, E. Gallardo, X. Suárez-Calvet, 2019, Annals of clinical and translational neurology.

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.

A. Martínez-Arroyo, J. Arpa, I. Illa, 2015, Journal of neuromuscular diseases.

International consensus guidance for management of myasthenia gravis

M. Benatar, D. Richman, N. Gilhus, 2016, Neurology.

Increased intramuscular nerve branching and inhibition of programmed cell death of chick embryo motoneurons by immunoglobulins from patients with motoneuron disease

R. Oppenheim, L. Piedrafita, C. Solsona, 2010, Journal of Neuroimmunology.

Myelopathy of unknown etiology A clinical follow‐up and MRI study of 57 cases

J. Martí-Fàbregas, I. Illa, A. Escartín, 1989, Acta neurologica Scandinavica.

International Consensus Guidance for Management of Myasthenia Gravis

Jacqueline Palace, M. Benatar, D. Richman, 2020, Neurology.

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.

A. López de Munain, I. Illa, J. Díaz-Manera, 2020, Medicina clinica.

Chronic idiopathic sensory ataxic neuropathy: immunological aspects of a series of 17 patients.

I. Illa, E. Gallardo, F. Graus, 2001, Revue neurologique.

Treatment strategies for myasthenia gravis

I. Illa, R. Rojas‐García, Jordi Díaz-Manera, 2009, Expert opinion on pharmacotherapy.

J. Pollard, C. Sommer, P. Bouche, 2006, European journal of neurology.

Altered RIG‐I/DDX58‐mediated innate immunity in dermatomyositis

G. Nogales-Gadea, I. Illa, E. Gallardo, 2014, The Journal of pathology.

Anti-Neurofascin-155 IgG4 antibodies prevent paranodal complex formation in vivo.

J. Vallat, J. Devaux, I. Illa, 2019, The Journal of clinical investigation.

Guidelines for treatment of autoimmune neuromuscular transmission disorders

N. Gilhus, J. Verschuuren, I. Illa, 2006, European journal of neurology.

Enrichment of serum IgG4 in MuSK myasthenia gravis patients

D. Richman, J. Verschuuren, A. Punga, 2022, Journal of Neuroimmunology.

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity

J. Verschuuren, I. Illa, K. Straasheijm, 2016, Journal of Neuroimmunology.

Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients

R. Blesa, I. Illa, E. Gallardo, 2008, Journal of Neuroimmunology.

Treatment strategies for myasthenia gravis: an update

I. Illa, J. Díaz-Manera, R. Rojas Garcia, 2012, Expert Opinion on Pharmacotherapy.

Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis

M. Benatar, R. Barohn, J. Kissel, 2019, Muscle & nerve.

Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia

I. Illa, E. Gallardo, E. Moga, 2022, Neuromuscular Disorders.

["Seronegative" myasthenia gravis and antiMuSK positive antibodies: description of Spanish series].

I. Illa, E. Gallardo, J. Díaz-Manera, 2005, Medicina clinica.

Platelet-Derived Growth Factor BB In ﬂ uences Muscle Regeneration in Duchenne Muscle Dystrophy

I. Illa, X. Suárez-Calvet, E. Fernández-Simón, 2022 .

Does Campylobacter jejuni infection elicit "demyelinating" Guillain-Barré syndrome?

I. Illa, J. Berciano, 2005, Neurology.