Lista de obras -

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

artículo científico publicado en 2005

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

artículo científico publicado en 2011

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

artículo científico publicado en 2006

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.

artículo científico publicado en 2009

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

artículo científico publicado en 2013

A positive modifier of spinal muscular atrophy in the SMN2 gene

artículo científico publicado en 2009

ATP1A3-Related Neurologic Disorders

artículo científico publicado en 2018

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

scientific article published on 01 November 2019

Alpha-synuclein loss in spinal muscular atrophy

artículo científico publicado en 2010

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

artículo científico publicado en 2015

Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation

artículo científico publicado en 2004

Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome

artículo científico publicado en 2009

An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis

artículo científico publicado en 2003

An unusual pathologic feature associated with dermatomyositis

artículo científico publicado en 2006

Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes

artículo científico publicado en 2003

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

artículo científico publicado en 2013

Astrocytes influence the severity of spinal muscular atrophy

artículo científico publicado en 2015

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

artículo científico publicado en 2016

Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy

artículo científico publicado en 2009

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

artículo científico publicado en 2007

Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study

artículo científico publicado en 2012

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

artículo científico publicado en 2015

Clinical and genetic characterization of manifesting carriers of DMD mutations

artículo científico publicado en 2010

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

scientific article published on 01 December 1999

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

artículo científico publicado en 2004

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

artículo científico publicado en 2015

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

artículo científico publicado en 2017

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

artículo científico publicado en 2009

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

artículo científico publicado en 2019

Compound muscle action potential and motor function in children with spinal muscular atrophy

artículo científico publicado en 2010

Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling

artículo científico publicado en 2007

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

artículo científico publicado en 2014

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

artículo científico publicado en 2015

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

artículo científico publicado en 2012

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

artículo científico publicado en 2021

Developing multidisciplinary clinics for neuromuscular care and research.

artículo científico publicado en 2017

Diagnosis and treatment of neurotransmitter-related disorders

artículo científico publicado en 2002

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood

scientific article published on 19 March 2018

Disclosure of genetic research results to members of a founder population

artículo científico publicado en 2014

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.

artículo científico publicado en 2017

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

scientific article (publication date: 2012)

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 2009

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation

artículo científico publicado en 2017

Frontal abnormalities in a patient with obsessive-compulsive disorder: the role of structural lesions in obsessive-compulsive behavior

artículo científico publicado en 1995

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

artículo científico publicado en 2015

Genotype-structure-phenotype relationships diverge in paralogs , , and

Glucose metabolism and pancreatic defects in spinal muscular atrophy

artículo científico publicado en 2012

Harnessing the power of the patient perspective for rare disease therapeutics

artículo científico publicado en 2018

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

artículo científico publicado en 2004

Impaired kidney structure and function in spinal muscular atrophy

artículo científico publicado en 2019

Increased systemic HSP70B levels in spinal muscular atrophy infants

publication published on 15 May 2021

Infant botulism in the age of botulism immune globulin

artículo científico publicado en 2005

Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet

artículo científico publicado en 1997

Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience

artículo científico publicado en 2016

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy

artículo científico publicado en 2013

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

artículo científico publicado en 2017

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps

artículo científico publicado en 2019

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

artículo científico publicado en 2008

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

artículo científico publicado en 2008

Motor unit number estimation in infants and children with spinal muscular atrophy

artículo científico publicado en 2002

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

artículo científico publicado en 2011

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

artículo científico publicado en 1999

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

artículo científico publicado en 2002

Mutilating hand syndrome in an infant with familial carpal tunnel syndrome

artículo científico publicado en 1998

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

scientific article published on 24 August 2016

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

artículo científico publicado en 2005

Natural history of infantile-onset spinal muscular atrophy.

artículo científico publicado en 2017

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

artículo científico publicado en 2017

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

scientific article published on 26 April 2020

New therapeutic approaches to spinal muscular atrophy

artículo científico publicado en 2012

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

artículo científico publicado en 2011

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

artículo científico publicado en 2018

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.

artículo científico publicado en 2019

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

scientific article published on 12 September 2019

Nutritional practices at a glance: spinal muscular atrophy type I nutrition survey findings

artículo científico publicado en 2013

Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I.

artículo científico publicado en 2012

Of SMN in mice and men: a therapeutic opportunity

artículo científico publicado en 2011

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency

artículo científico publicado en 1999

Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy

artículo científico publicado en 2019

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

artículo científico publicado en 2000

Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy

artículo científico publicado en 2014

Perspectives on clinical trials in spinal muscular atrophy

artículo científico publicado en 2007

Phase II open label study of valproic acid in spinal muscular atrophy

artículo científico publicado en 2009

Population pharmacokinetics of valproic acid in pediatric patients with epilepsy: considerations for dosing spinal muscular atrophy patients

artículo científico publicado en 2011

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies

artículo científico publicado en 2013

Pregnancy and delivery in women with spinal muscular atrophy

artículo científico publicado en 2017

Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development

artículo científico publicado en 2019

Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy

scientific article published on 22 April 2020

Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy.

artículo científico publicado en 2013

Rasch analysis of clinical outcome measures in spinal muscular atrophy.

artículo científico publicado en 2013

Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

article by Amy Bartlett et al published September 2018 in Contemporary clinical trials communications

Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I

artículo científico publicado en 2013

Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy

artículo científico publicado en 2011

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders

artículo científico publicado en 2017

Resistance strength training exercise in children with spinal muscular atrophy

artículo científico publicado en 2015

Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II.

artículo científico publicado en 2015

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy

artículo científico publicado en 2016

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy

artículo científico publicado en 2010

SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy

artículo científico publicado en 2011

SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy

artículo científico publicado en 2014

SMA-MAP: a plasma protein panel for spinal muscular atrophy

artículo científico publicado en 2013

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials

artículo científico publicado en 2016

SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet?

artículo científico publicado en 2014

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

artículo científico publicado en 2015

Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy

artículo científico publicado en 2019

Spinal Muscular Atrophy

Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults

artículo científico publicado en 2015

Spinal Muscular Atrophy: Classification, Diagnosis, Management, Pathogenesis, and Future Research Directions

Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives

artículo científico publicado en 2007

Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database

scientific article published on 16 June 2020

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

artículo científico publicado en 2013

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

artículo científico publicado en 2011

The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability

artículo científico publicado en 2010

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond

artículo científico publicado en 2014

Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.

artículo científico publicado en 2001

Vitamin D intake is inadequate in spinal muscular atrophy type I cohort: correlations with bone health

artículo científico publicado en 2013

Whole Blood SMN Protein Levels Correlate with Severity of Denervation in Spinal Muscular Atrophy

artículo científico publicado en 2020

Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients

scientific article published on 17 June 2020

Lista de obras de

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

A positive modifier of spinal muscular atrophy in the SMN2 gene

ATP1A3-Related Neurologic Disorders

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

Alpha-synuclein loss in spinal muscular atrophy

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation

Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome

An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis

An unusual pathologic feature associated with dermatomyositis

Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Astrocytes influence the severity of spinal muscular atrophy

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Clinical and genetic characterization of manifesting carriers of DMD mutations

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

Compound muscle action potential and motor function in children with spinal muscular atrophy

Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

Developing multidisciplinary clinics for neuromuscular care and research.

Diagnosis and treatment of neurotransmitter-related disorders

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood

Disclosure of genetic research results to members of a founder population

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

Expanding CEP290 mutational spectrum in ciliopathies

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation

Frontal abnormalities in a patient with obsessive-compulsive disorder: the role of structural lesions in obsessive-compulsive behavior

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

Genotype-structure-phenotype relationships diverge in paralogs , , and

Glucose metabolism and pancreatic defects in spinal muscular atrophy

Harnessing the power of the patient perspective for rare disease therapeutics

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

Impaired kidney structure and function in spinal muscular atrophy

Increased systemic HSP70B levels in spinal muscular atrophy infants

Infant botulism in the age of botulism immune globulin

Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet

Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

Motor unit number estimation in infants and children with spinal muscular atrophy

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

Mutilating hand syndrome in an infant with familial carpal tunnel syndrome

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

Natural history of infantile-onset spinal muscular atrophy.

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

New therapeutic approaches to spinal muscular atrophy

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Nutritional practices at a glance: spinal muscular atrophy type I nutrition survey findings

Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I.

Of SMN in mice and men: a therapeutic opportunity

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency