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List of works by Josep Gamez

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

scientific article published on 01 January 2009

A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

scientific article

A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome

scientific article published in June 2004

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy

scientific article published on 01 July 2001

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

scientific article published on 01 May 1999

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

scientific article published on 01 August 1999

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

scientific article published on 01 August 2003

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

scientific article published in April 2004

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease

scientific article published on 01 February 2000

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

scientific article published on 12 November 2004

ALS Untangled No. 20: the Deanna protocol

scientific article published on 02 May 2013

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

scientific article published in September 2006

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

scientific article

Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNALys point mutations in mitochondrial DNA

article

Atypical form of amyotrophic lateral sclerosis: a new term to define a previously well known form of ALS.

scientific article published in January 2000

Autoimmune-like hepatitis during masitinib therapy in an amyotrophic lateral sclerosis patient.

scientific article

Bilateral optic nerve atrophy in myotonic dystrophy

scientific article published on 01 March 2001

Bilaterally symmetric form of Hirayama disease

scientific article published on 01 January 2010

Brachial amyotrophic diplegia: a slowly progressive motor neuron disorder

scientific article published in June 2000

CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis

scientific article published in 2014

Camptocormia associated with an expanded allele in the TATA box-binding protein gene

scientific article published on 01 July 2010

Cellular transplants in amyotrophic lateral sclerosis patients: an observational study

scientific article

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

scientific article published in July 2003

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

scientific article published in June 2000

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

scientific article

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

scientific article published on 01 August 2019

Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

scientific article

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

scientific article published on 5 April 2013

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

scientific article published on 20 November 2018

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

scientific article published on 19 August 2010

Dysphagia due to Chiari I malformation mimicking ALS.

scientific article published in April 2003

Exercise intolerance resulting: from a muscle-restricted mutation in the mitochondrial tRNALeu(CUN)gene

article

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

scientific article published on January 20, 2012

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

scientific article published on 01 May 2006

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

scientific article published on 06 December 2010

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

scientific article published on 01 July 1998

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

scientific article published on 27 November 2020

Flail arm syndrome of Vulpian-Bernhart's form of amyotrophic lateral sclerosis

scientific article published in August 1999

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

scientific article

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

scientific article published on 10 January 2012

Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.

scientific article published in January 2004

Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?

scientific article published on 08 November 2019

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

scientific article published on 02 June 2010

Icteric toxic hepatitis associated with riluzole

scientific article published on 01 February 1998

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

scientific article published on 7 September 2016

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

scientific article published on 23 September 2015

Influence of early neurological complications on clinical outcome following lung transplant

scientific article

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

scientific article published on 29 August 2008

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

scientific article published on 01 July 2018

Intravenous immunoglobulin as monotherapy for myasthenia gravis during pregnancy

scientific article published on 6 November 2017

Intravenous immunoglobulin for preparing myasthenia gravis patients for thymectomy and other surgical procedures preventing myasthenic crisis

scientific article published on 01 December 2014

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

scientific article published on 17 July 2019

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

scientific article published on 11 September 2007

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

scientific article published on 28 February 2018

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

scientific article published on 29 March 2013

Lithium for treatment of amyotrophic lateral sclerosis: much ado about nothing

scientific article published on 10 April 2013

MRI findings in Möbius syndrome: correlation with clinical features

scientific article published on 01 October 2000

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

scientific article published on 07 July 2019

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

scientific article

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

scientific article published on 02 July 2011

Molecular genetic analysis of McArdle's disease in Spanish patients

article

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study

scientific article published on 01 November 2001

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

scientific article

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

scientific article published on December 2003

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

scientific article published on 03 May 2006

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

scientific article

New hope for patients with pure lower motor neurons syndromes

scientific article published on March 2000

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

scientific article published on 27 August 2013

Novel mutation in the PYGM gene resulting in McArdle disease.

scientific article

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

scientific article published on 01 September 1999

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

scientific article

Paralytic ileus in a MELAS patient mimicking MNGIE

scientific article published on 01 August 2005

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

scientific article published on 21 August 2019

Pharyngo-esophageal motility disturbances in patients with myotonic dystrophy

scientific article published on 01 September 1999

Phenotypic variability in a Spanish family with MNGIE.

scientific article published in August 2002

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

scientific article published on 25 April 2007

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

scientific article published on 01 February 1998

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

scientific article

Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion"

scientific article published on 01 December 2019

Reversion of mtDNA depletion in a patient with TK2 deficiency

scientific article published in April 2003

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

scientific article published on 22 December 2016

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

scientific article

SOM0226, a repositioned compound for the treatment of TTR amyloidosis

scientific article published on 2 November 2015

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

scientific article published on 21 May 2012

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia

scientific article

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

scientific article published on 01 November 2003

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

scientific article published on 27 November 2015

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

scientific article published in November 2002

TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies

scientific article published in March 2009

Tacrolimus for myasthenia gravis: a clinical study of 212 patients.

scientific article

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

scientific article published on 7 September 2002

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

scientific article published on 24 June 2010

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.

scientific article published on 13 June 2009

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

scientific article published on 23 May 2019

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

scientific article published in September 2003

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

scientific article published on 11 July 2015

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

scientific article published on 01 November 2000

Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum

scientific article published on 21 September 2018

[Is ischemic heart disease in type I myotonic dystrophy really uncommon?]

scientific article published on 01 December 2006

[McArdle disease: a disease with high allele heterogeneity with different physiopathologic mechanism]

scientific article published on 01 April 2000

[Non-compliance of domiciliary ventilatory treatment in patients with myotonic dystrophy]

scientific article published on 01 October 2000

[Non-compliance with home ventilation treatment in patients with Steinert's myotonic dystrophy (DM-1) who experience respiratory problems during sleep]

scientific article published on 01 October 2000

[Spastic paraparesias by HTLV-1: early identification of a new case. Review of the Spanish casuistics]

scientific article published in April 2001

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