J. Gámez

发表

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

S. Solomon, A. Shah, W. Litchy, 2018, The New England journal of medicine.

Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1.

R. Marcos, J. Surrallés, A. Velázquez, 2003, Nucleic acids research.

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

M. Baiget, D. Monckton, J. Gámez, 2000, European Journal of Human Genetics.

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA

C. Bruno, J. Enríquez, J. Montoya, 1998, Neurology.

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction

S. Dimauro, J. De La Torre, F. Mearin, 2002, Acta Neuropathologica.

[Minocycline for the treatment of amyotrophic lateral sclerosis: neuroprotector or neurotoxin? Reflections on another failure of translational medicine].

J. Gámez, 2008, Neurologia.

Transthyretin stabilization activity of the catechol-O-methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study#

P. Suñé, N. Reig, R. Rojas-García, 2019, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

HLA-DQB1*05:02, *05:03, and *03:01 alleles as risk factors for myasthenia gravis in a Spanish cohort

J. Gámez, J. Vidal-Taboada, F. Rudilla, 2022, Neurological Sciences.

W1.2 Multifocal motor neuropathy. Clinical and electrophysiological long term evolution in a group of patients

M. Comabella, J. Gámez, M. Gratacós, 2011, Clinical Neurophysiology.

Long-term survival analysis of masitinib in amyotrophic lateral sclerosis

A. Ludolph, W. Bradley, O. Hermine, 2021, Therapeutic advances in neurological disorders.

MRI findings in Möbius syndrome: Correlation with clinical features

À. Rovira, S. Pedraza, A. Rovira, 2000, Neurology.

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

V. Álvarez, E. Coto, J. Infante, 2013, Clinical genetics.

First Case of Parkinsonian‐Pyramidal Syndrome Associated with a TBK1 Mutation

M. Kurtis, C. Klein, J. Gámez, 2020, Movement disorders : official journal of the Movement Disorder Society.

Influence of early neurological complications on clinical outcome following lung transplant

M. Nadal, J. Solé, J. Gámez, 2017, PloS one.

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

M. Reilly, H. Houlden, J. Gámez, 2016, neurogenetics.

Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients

I. Cusco, M. Barceló, M. Baiget, 2002, Neurology.

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.

A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance

G. Nogales-Gadea, E. García-Arumí, A. Andreu, 2004, Journal of the Neurological Sciences.

Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations.

F. Santorelli, C. Casali, J. Montoya, 2000, Biochemical and biophysical research communications.

PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis

J. Gámez, Cándida Salvans, M. Morales, 2014, Journal of Neurology.

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

V. Álvarez, E. Coto, J. Rosell, 2010, BMC neurology.

Mutational spectrum of the SPG 4 ( SPAST ) and SPG 3 A ( ATL 1 ) genes in Spanish patients with hereditary spastic paraplegia

V. Álvarez, E. Coto, J. Rosell, 2010 .

Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia

J. Winkler, U. Bogdahn, P. Bauer, 2007, Annals of neurology.

Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: Clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients

M. Barceló, M. Baiget, E. Tizzano, 2007, Clinical Neurology and Neurosurgery.

A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS

E. García-Arumí, A. Andreu, J. Gámez, 2002, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population

J. Gámez, M. Morales, Enrique Syriani, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last

J. Gámez, 2014, Neuropathology : official journal of the Japanese Society of Neuropathology.

Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: A novel myotilinopathy phenotype?

J. Armstrong, I. Ferrer, L. Goldfarb, 2009, Journal of the Neurological Sciences.

Does ALS‐FUS without FUS mutation represent ALS‐FET? Report of three cases

G. Ricken, J. Clarimón, R. Sánchez-Valle, 2018, Neuropathology and applied neurobiology.

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

V. Álvarez, E. Coto, J. Infante, 2012, Journal of Neurology.

Variably protease‐sensitive prionopathy presenting within ALS/FTD spectrum

I. Zerr, R. Sánchez-Valle, F. Llorens, 2018, Annals of clinical and translational neurology.

Chorea‐ballism associated with familial amyotrophic lateral sclerosis. A clinical, genetic, and neuropathological study

M. Milá, I. Ferrer, S. Boluda, 2008, Movement disorders : official journal of the Movement Disorder Society.

Consensus-based care recommendations for adults with myotonic dystrophy type 2

R. Moxley, G. Meola, G. Bassez, 2019, Neurology. Clinical practice.

Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy

J. Gámez, L. Martorell, M. Tondo, 2012, Journal of Neurology.

Morphological abnormalities of hepatic mitochondria in two patients with spinocerebellar ataxia type 7

J. Gámez, G. Modi, A. Codina, 1999, Journal of neurology, neurosurgery, and psychiatry.

Icteric toxic hepatitis associated with riluzole

J. Guàrdia, J. Gámez, C. Cervera, 1998, The Lancet.

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

E. Aller, L. Martínez-Dolz, I. Azorín, 2022, Annals of neurology.

Eculizumab improves fatigue in refractory generalized myasthenia gravis

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

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

S. Borrego, C. Hernández-Chico, J. Rosell, 2010, Journal of Medical Genetics.

Experience with starting tacrolimus postoperatively after transsternal extended thymectomy in patients with myasthenia gravis

R. Vilallonga, J. Fort, M. Armengol, 2006, Current medical research and opinion.

A comparison of long-term post-thymectomy outcome of anti-AChR-positive, anti-AChR-negative and anti-MuSK-positive patients with non-thymomatous myasthenia gravis

R. Vilallonga, M. Armengol, J. Gámez, 2009 .

Progressive presynaptic dopaminergic deterioration in Huntington disease: a [123I]-FP-CIT SPECT two-year follow-up study.

J. Hernández-Vara, J. Castell‐Conesa, J. Gámez, 2014, Clinical nuclear medicine.

Tacrolimus for Myasthenia Gravis

R. Vilallonga, M. Armengol, J. Gámez, 2008 .

Post-thymectomy combined treatment of prednisone and tacrolimus versus prednisone alone for consolidation of complete stable remission in patients with myasthenia gravis: a non-randomized, non-controlled study

R. Vilallonga, J. Fort, M. Armengol, 2007, Current medical research and opinion.

Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype‐phenotype correlation study

R. Fletterick, J. Arenas, Miguel Ángel Martín, 2001, Annals of neurology.

Study of the prevalence of familial autoimmune myasthenia gravis in a Spanish cohort

J. Gámez, Gisela Gili, M. Salvadó, 2016, Journal of the Neurological Sciences.

Phenotypic variability in a Spanish family with MNGIE

A. Andreu, L. Guarner, J. Gámez, 2002, Neurology.

Reversion of mtDNA depletion in a patient with TK2 deficiency

S. Dimauro, A. Marina, A. Meseguer, 2003, Neurology.

TAR DNA-Binding Protein 43 Accumulation in Protein Aggregate Myopathies

Isidre Ferrer, I. Ferrer, J. Gámez, 2009, Journal of neuropathology and experimental neurology.

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies

K. Baggerly, A. Unruh, J. Mendell, 2014, Neuromuscular Disorders.

The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time Clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree

J. Gámez, M. Morales, Enrique Syriani, 2009, Journal of the Neurological Sciences.

Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNA(Lys) point mutations in mitochondrial DNA.

F. Villarroya, M. Pineda, J. Montoya, 2006, Molecular genetics and metabolism.

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

F. Wright, M. Shriver, R. Moxley, 2003, American journal of human genetics.

Molecular genetic analysis of McArdle's disease in Spanish patients

S. Dimauro, C. Bruno, A. Andreu, 1998, Neurology.

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease

I. Férnandez-Cadenas, J. Arenas, J. Gámez, 2003, Neurology.

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

S. Dimauro, A. Andreu, J. Gámez, 1999, Muscle & nerve.

A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease

S. Dimauro, C. Bruno, A. Andreu, 1999, Neuromuscular Disorders.

Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy

E. Tizzano, H. Yoo, Kiejung Park, 2012, Neuromuscular Disorders.

Intravenous immunoglobulin to prevent myasthenic crisis after thymectomy and other procedures can be omitted in patients with well-controlled myasthenia gravis

P. Suñé, J. Gámez, M. Deu, 2019, Therapeutic advances in neurological disorders.

Intravenous immunoglobulin as monotherapy for myasthenia gravis during pregnancy

J. Gámez, M. Casellas, S. Manrique, 2017, Journal of the Neurological Sciences.

Pharyngo-esophageal motility disturbances in patients with myotonic dystrophy.

J. Malagelada, F. Mearin, J. Gámez, 1999, Scandinavian journal of gastroenterology.

Abnormal brainstem auditory evoked responses in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Evidence of delayed central conduction time

J. Gámez, T. Minoves, 2006, Clinical Neurophysiology.

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient

F. Mearin, A. Andreu, J. Gámez, 2005, Journal of the Neurological Sciences.

Autosomal dominant limb-girdle muscular dystrophy

S. Dimauro, A. Andreu, J. Gámez, 2001, Neurology.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

I. Férnandez-Cadenas, E. García-Arumí, A. Andreu, 2013, Brain : a journal of neurology.

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2

A. Meseguer, J. Gámez, M. Hirano, 2003, Neurology.

Autosomal dominant limb-girdle muscular dystrophy: A large kindred with evidence for anticipation

S. Dimauro, A. Andreu, J. Gámez, 2001 .

Distal myopathy of Miyoshi and Nonaka types: a clinical, pathological and quantitative EMG study of 7 cases

J. Gámez, C. Navarro, C. Cervera, 1997, Neuromuscular Disorders.

Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA

M. Pineda, J. Montoya, A. Solano, 2003, Journal of medical genetics.

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.

M. Baiget, A. López de Munain, I. Gich, 1998, Human molecular genetics.

Cellular transplants in amyotrophic lateral sclerosis patients: an observational study.

R. Burgos, J. Gámez, F. Carmona, 2010, Cytotherapy.

Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies

M. Reilly, H. Houlden, R. Rojas-García, 2015, Journal of Neurology.

Does reduced [123I]-FP-CIT binding in Huntington's disease suggest pre-synaptic dopaminergic involvement?

J. Hernández-Vara, J. Castell‐Conesa, J. Gámez, 2010, Clinical Neurology and Neurosurgery.

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

M. Baiget, A. Lasa, B. Fontaine, 1999, Journal of Neurology.

Influence of ectopic thymic tissue on clinical outcome following extended thymectomy in generalized seropositive nonthymomatous myasthenia gravis.

R. Vilallonga, M. Armengol, J. Gámez, 2008, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

Application of Mesenchymal Stem Cells in Amyotrophic Lateral Sclerosis

J. Gámez, 2013 .

Flail arm syndrome or VulpianBernhart’s form of amyotrophic lateral sclerosis

J. Gámez, A. Codina, C. Cervera, 1999, Journal of neurology, neurosurgery, and psychiatry.

CX3CR1 Is a Modifying Gene of Survival and Progression in Amyotrophic Lateral Sclerosis

À. López-López, N. Mahy, J. Gámez, 2014, PloS one.

CX 3 CR 1 Is a Modifying Gene of Survival and Progression in Amyotrophic Lateral Sclerosis

À. López-López, N. Mahy, J. Gámez, 2014 .

Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants

J. Clarimón, R. Sánchez-Valle, A. Lladó, 2021, Brain pathology.

Bilateral optic nerve atrophy in myotonic dystrophy.

D. Montané, J. Gámez, L. Martorell, 2001, American journal of ophthalmology.

Do Not Trust the Pedigree: Reduced and Sex‐Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

R. Schüle, V. Álvarez, Michael A. Gonzalez, 2013, Human mutation.

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: Should all sporadic ALS cases also be screened for SOD1?

J. Álvarez-Sabín, E. García-Arumí, J. Gámez, 2006, Journal of the Neurological Sciences.

Confirmation of early non-bulbar onset of amyotrophic lateral sclerosis in Spanish league soccer players.

J. Gámez, F. Carmona, 2021, Journal of Neurological Sciences.

Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.

X. de la Cruz, E. García-Arumí, J. Gámez, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

V. Álvarez, F. Grandas, J. Infante, 2019, Movement disorders : official journal of the Movement Disorder Society.

Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial

A. Chiò, J. Kinet, C. Estol, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

BILATERALLY SYMMETRIC FORM OF HIRAYAMA DISEASE

J. Gámez, 2010, Neurology.

Novel mutation in the PYGM gene resulting in McArdle disease.

A. Lucia, I. Férnandez-Cadenas, J. Arenas, 2006, Archives of neurology.

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

I. Férnandez-Cadenas, J. Arenas, Miguel Ángel Martín, 2003, Muscle & nerve.

I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families

C. Caponnetto, J. Gámez, D. Bordo, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

A proof‐of‐concept study with SOM3355 (bevantolol hydrochloride) for reducing chorea in Huntington's disease

J. Kulisevsky, N. Reig, M. Calopa, 2022, British Journal of Clinical Pharmacology.

Incomplete penetrance in the Spanish family with limb‐girdle muscular dystrophy type 1F

J. Gámez, M. Salvadó, M. Gratacós, 2016, Muscle & nerve.

KATP Channel Expression and Genetic Polymorphisms Associated with Progression and Survival in Amyotrophic Lateral Sclerosis

M. Pugliese, N. Mahy, J. Gámez, 2018, Molecular Neurobiology.

CHANNEL EXPRESSION AND GENETIC POLYMORPHISMS ASSOCIATED WITH PROGRESSION AND SURVIVAL IN AMYOTROPHIC LATERAL SCLEROSIS

M. Pugliese, J. Gámez, J. Vidal-Taboada, 2018 .

Germline mutational dynamics in myotonic dystrophy type 1 males

T. Ashizawa, M. Baiget, M. Cayuela, 2004, Neurology.

UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort

À. López-López, N. Mahy, J. Gámez, 2015, Journal of Neurology.