Lista de obras -

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

artículo científico publicado en 2015

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia

artículo científico publicado en 2015

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome

artículo científico publicado en 2002

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome

artículo científico publicado en 2004

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

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

artículo científico publicado en 2011

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment

artículo científico publicado en 2015

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

scholarly article by Ulrike Schara et al published 10 December 2010 in Journal of Inherited Metabolic Disease

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

artículo científico publicado en 2014

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn

artículo científico publicado en 2006

Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation

artículo científico publicado en 2012

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

artículo científico publicado en 2008

Clinical and neuropathological findings in patients with TACO1 mutations

artículo científico publicado en 2010

Congenital Myasthenic Syndromes: Current Diagnostic and Therapeutic Approaches ⬇️

artículo científico publicado el 21 de agosto de 2012

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

artículo científico publicado en 2003

Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis

artículo científico publicado en 2013

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

artículo científico publicado en 2012

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

artículo científico publicado en 2007

Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860].

artículo científico publicado en 2017

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

artículo científico publicado en 2012

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

artículo científico publicado en 2015

Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation ⬇️

artículo científico publicado el 6 de diciembre de 2012

Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES.

artículo científico publicado en 2012

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia

artículo científico publicado en 2009

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

artículo científico publicado en 2011

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

artículo científico publicado en 2016

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

artículo científico publicado en 2009

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

artículo científico publicado en 2012

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

artículo científico publicado en 2010

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Mitochondrial dysfunction in liver failure requiring transplantation

artículo científico publicado en 2016

Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa

artículo científico publicado en 2009

Mutation history of the roma/gypsies

artículo científico publicado en 2004

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

artículo científico publicado en 2014

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

artículo científico publicado en 2012

Novel CACNA1A mutation(s) associated with slow saccade velocities

artículo científico publicado en 2013

Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.

artículo científico publicado en 2014

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

artículo científico publicado en 2016

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

artículo científico publicado en 2010

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

artículo científico publicado en 2007

Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome ⬇️

artículo científico publicado el 18 de mayo de 2013

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient

artículo científico publicado en 2017

Respiratory chain deficiency in nonmitochondrial disease

artículo científico publicado en 2015

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

artículo científico publicado en 2013

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency

artículo científico publicado en 2016

The Curse of Apneic Spells

artículo científico publicado en 2017

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

artículo científico publicado en 2017

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

artículo científico publicado en 2015

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

artículo científico publicado en 2014

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

artículo científico publicado en 2012

What's in the serum of seronegative MG and LEMS?: MuSK et al

artículo científico publicado en 2002

Lista de obras de

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

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

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn

Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation

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

Clinical and neuropathological findings in patients with TACO1 mutations

Congenital Myasthenic Syndromes: Current Diagnostic and Therapeutic Approaches ⬇️

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860].

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A&gt;T mtDNA mutation ⬇️

Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES.

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

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

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency

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

Mitochondrial dysfunction in liver failure requiring transplantation

Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa

Mutation history of the roma/gypsies

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

Novel CACNA1A mutation(s) associated with slow saccade velocities

Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome ⬇️

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient

Respiratory chain deficiency in nonmitochondrial disease

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency

The Curse of Apneic Spells

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

What's in the serum of seronegative MG and LEMS?: MuSK et al

Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation ⬇️