J. Colomer

发表

Electrophysiological approach to the study of essential tremor in children and adolescents.

J. Valls-Solé, E. Fernández-Álvarez, C. Fusco, 2003, Developmental medicine and child neurology.

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

J. Hoenicka, J. Armstrong, C. Ortez, 2021, Pediatric neurology.

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies

C. Bönnemann, D. Cuadras, C. Ortez, 2021, Neurology.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

F. Tort, A. Ribes, J. Montoya, 2012, Molecular genetics and metabolism.

Pontocerebellar hypoplasia type 1

S. Nelson, W. Reardon, F. Muntoni, 2013, Neurology.

Moyamoya syndrome associated with Down syndrome: Clinical and radiological features

J. Colomer, A. Nascimento, R. Navarro, 2006 .

Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue

M. Kussmann, F. Raymond, S. Métairon, 2010, BMC Genomics.

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Hanns Lochmüller, H. Lochmüller, C. Ortez, 2016, Journal of Neurology.

Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

F. Muntoni, S. Kalko, C. Ortez, 2013, PloS one.

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

J. Hoenicka, R. Carlier, H. Lochmüller, 2019, American journal of medical genetics. Part A.

Inborn errors of metabolism and motor disturbances in children

S. Dimauro, M. Pineda, À. García‐Cazorla, 2009, Journal of Inherited Metabolic Disease.

Clinicopathological features of genetically confirmed Danon disease

S. Dimauro, I. Nonaka, I. Nishino, 2002, Neurology.

Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI–Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-&kgr;B Signaling

I. Ferrer, A. Gómez-Foix, J. Colomer, 2012, Journal of neuropathology and experimental neurology.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

H. Lochmüller, T. Evangelista, J. Colomer, 2016, Neuromuscular Disorders.

De novo LMNA mutations cause a new form of congenital muscular dystrophy

E. Bertini, F. Muntoni, L. de Meirleir, 2008, Annals of neurology.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

Hereditary motor and sensory neuropathy‐russe: New autosomal recessive neuropathy in balkan gypsies

L. Kalaydjieva, P. Thomas, R. King, 2001, Annals of neurology.

Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map

L. French, L. Kalaydjieva, J. Colomer, 2003, Neuromuscular Disorders.

Hereditary motor and sensory neuropathy Lom

D. Gresham, L. Kalaydjieva, R. King, 2001 .

Hereditary Motor and Sensory Neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies

L. Kalaydjieva, R. King, P. Thomas, 2000, Neuromuscular Disorders.

Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

F. Baas, A. Starr, D. Gresham, 2000, Neuromuscular Disorders.

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

A. Munnich, J. Melki, C. Cruaud, 1995, Nature Genetics.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

M. Baiget, E. Rivas, C. Paradas, 2012, Orphanet Journal of Rare Diseases.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy

E. Bertini, B. Schlotter-Weigel, E. Malfatti, 2020, Neurology.

G.P.4.04 Lamin A/C gene mutation as a cause of dropped head syndrome. Extending the striated muscle laminopathies

P. Richard, J. Colomer, G. Bonne, 2006, Neuromuscular Disorders.

Autosomal dominant Emery–Dreifuss muscular dystrophy: a new family with late diagnosis

S. Manilal, K. Schwartz, E. Fernández-Álvarez, 2002, Neuromuscular Disorders.

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

D. Cuadras, J. Colomer, L. Martorell, 2019, Neuromuscular Disorders.

Molecular identification of an enterovirus 99 strain in Spain

J. Colomer, N. Torner, M. Cabrerizo, 2011, Archives of Virology.

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

C. Ortez, Miroslav P. Milev, M. Sacher, 2019, Scientific Reports.

Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene

E. Ruiz-Pesini, M. Pineda, J. Montoya, 2010, Pediatric Research.

Multiple Endocrine Involvement in Two Pediatric Patients with Kearns-Sayre Syndrome

R. Artuch, M. Pineda, J. Montoya, 1998, Hormone Research in Paediatrics.

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about

J. Armstrong, C. Ortez, J. Colomer, 2014, BMC Pediatrics.

Title : Hypotonic male infant and MCT 8 deficiency-a diagnosis to think about 1 2

J. Armstrong, C. Ortez, J. Colomer, 2014 .

A novel insertional mutation of a single base in exon 12 of the dystrophin gene

M. Baiget, A. Lasa, J. Colomer, 1995, Clinical genetics.

Molecular identification of an enterovirus 99 strain in Spain

J. Colomer, N. Torner, M. Cabrerizo, 2012, Archives of Virology.

[Angelman syndrome: physical characteristics and behavioural phenotype in 37 patients with confirmed genetic diagnosis].

E. Monrós, F. Sanmartí, J. Conill, 2002, Revista de neurologia.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

P. Navas, E. Ruiz-Pesini, E. Trevisson, 2016, Mitochondrion.

Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

I. Ferrer, M. Rolland, J. Colomer, 2009, Histopathology.

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

S. Kalko, C. Ortez, E. Gallardo, 2015, PloS one.

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

L. de Meirleir, S. Kalko, E. Ruiz-Pesini, 2014, BMC Genomics.

Limb girdle muscular dystrophy due to mutations in POMT2

D. MacArthur, M. Lek, K. Claeys, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.

J. Beckmann, I. Richard, A. Lasa, 1998, The American journal of pathology.

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

D. Cuadras, C. Ortez, S. César, 2020, Pediatric neurology.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Hanns Lochmüller, R. Krahe, M. Shevell, 2007, Brain : a journal of neurology.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

T. Strom, K. Bushby, Jacqueline A Palace, 2011, American journal of human genetics.

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

R. Artuch, J. Colomer, C. Espinós, 2012, JIMD Reports.

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

M. Baiget, S. Pascual-Pascual, J. Juan-Mateu, 2013, PloS one.

Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease

Hanns Lochmüller, Thomas Voit, P K Thomas, 2003, Human mutation.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

D. MacArthur, M. Lek, K. Claeys, 2018, Skeletal Muscle.

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

H. Lochmüller, J. Senderek, S. Laval, 2016, Brain : a journal of neurology.

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

D. Cuadras, C. Ortez, J. Colomer, 2020, Neuromuscular Disorders.

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

J. Bertranpetit, Y. Parman, L. Kalaydjieva, 2005, Journal of Medical Genetics.

International Society for Pediatric and Adolescent Diabetes

V. Tillmann, D. Jacqmin, S. Bernasconi, 1998, Hormone Research in Paediatrics.

P.341 Collagen VI and endotrophin regulate glucose homeostasis in skeletal muscle

S. Kalko, J. Colomer, C. Jiménez-Mallebrera, 2016, Neuromuscular Disorders.

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.

M. Pineda, J. Jaeken, P. Briones, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

E. Bertini, B. Weschke, A. D’Amico, 2008, Brain : a journal of neurology.

Peripheral neuropathy in meningococcal septicemia.

J. Colomer, M. Roig, J. Santamaría, 1985, European neurology.

PGC-1α Induces Mitochondrial and Myokine Transcriptional Programs and Lipid Droplet and Glycogen Accumulation in Cultured Human Skeletal Muscle Cells

C. Lerin, A. Gómez-Foix, X. Palomer, 2012, PloS one.

Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child

J. Dalmau, C. Ortez, A. Saiz, 2019, Neurology: Neuroimmunology & Neuroinflammation.

[Respiratory chain and pyruvate metabolism deficiencies in pediatric patients: evaluation of biochemical tests for selective screening].

A. Ribes, R. Artuch, M. Pineda, 1998, Revista de neurologia.

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

J. Kaplan, M. Baiget, A. Lasa, 1998, European Journal of Human Genetics.

Syndrome of fixed dystonia in adolescents--short term outcome in 4 cases.

L. Lingappa, E. Fernández-Álvarez, J. Colomer, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

H. Lochmüller, V. Rakocevic-Stojanovic, J. Colomer, 2012, Journal of Neurology.

Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization

D. Cuadras, C. Ortez, A. Arzimanoglou, 2020, Epilepsia.

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up

T. Jaijo, R. Arteaga, J. Colomer, 2016, Neuromuscular Disorders.

Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene

M. Baiget, E. Tizzano, J. Colomer, 1994, European Journal of Pediatrics.

Molecular characterization of congenital myasthenic syndromes in Spain

J. Senderek, D. Beeson, T. Evangelista, 2017, Neuromuscular Disorders.

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

B. Cormand, D. Grinberg, S. Balcells, 1996, Journal of Inherited Metabolic Disease.

[Aspects of neuropathy in mitochondrial diseases].

R. Artuch, M. Pineda, J. Montoya, 2000, Revista de neurologia.

Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

Hanns Lochmüller, J. Colomer, A. Nascimento, 2006, Neuromuscular Disorders.

P.2.14 Isolated cognitive abnormalities associated to DMD mutations

M. Baiget, J. Juan-Mateu, J. Colomer, 2013, Neuromuscular Disorders.

Isolated cognitive abnormalities associated to DMD mutations

A. Cnaan, M. Baiget, C. Spurney, 2013 .

Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth

C. Paradas, T. Jaijo, J. Colomer, 2013, Clinical genetics.

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

Y. Parman, L. Kalaydjieva, R. King, 2006, Neuromuscular Disorders.

[Hypotonia in the neonatal period: 12 years' experience].

J. Campistol, J. Colomer, M. Iriondo, 2013, Revista de neurologia.

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

D. Cuadras, C. Ortez, J. Colomer, 2020, Pediatric neurology.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.