Search filters

List of works by Roberta Battini

"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.

scientific article

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)

45,X maleness: clinical and cytogenetic features in two patients.

scientific article published in January 2011

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

scientific article published on 8 January 2014

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

scientific article published on 12 February 2019

A Proposed Multidisciplinary Approach for Identifying Feeding Abnormalities in Children With Cerebral Palsy

scientific article published on 21 October 2011

A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review

scientific article published in 2021

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance

scientific article

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

scientific article published on 30 October 2014

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

Analysis of quantitative ultrasound graphic trace and derived variables assessed at proximal phalanges of the hand in healthy subjects and in patients with cerebral palsy or juvenile idiopathic arthritis. A pilot study.

scientific article published on 17 September 2009

Androgen-receptor blockade does not impair bone mineral density in adolescent females.

scientific article published in July 1997

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts.

scientific article published on 18 January 2008

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

scientific article published in June 2006

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. ⬇️

scientific article published on 17 July 2015

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome

scientific article published on 25 April 2020

Brain lactic alkalosis in Aicardi-Goutières syndrome.

scientific article published on February 2004

Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies.

scientific article

Brain morphometry of preschool age children affected by autism spectrum disorder: Correlation with clinical findings

scientific article published on 01 January 2019

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Burden, professional support, and social network in families of children and young adults with muscular dystrophies.

scientific article published on 22 April 2015

Central precocious puberty in Klinefelter syndrome: a case report with longitudinal follow-up of growth pattern

scientific article published on 01 October 1996

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

scientific article

Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22.

scientific article published in October 2004

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.

scientific article published in January 2011

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

scientific article (publication date: September 2002)

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

scientific article published on 29 January 2009

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions.

scientific article published on 6 December 2017

Cognitive, adaptive, and behavioral features in Joubert syndrome

scientific article published on 17 August 2016

Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.

scientific article

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

scientific article published on 4 December 2015

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

scientific article (publication date: December 2002)

Daily salbutamol in young patients with SMA type II

scientific article

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

scientific article

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

scientific article published on 14 February 2017

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency

scientific article (publication date: May 2003)

Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution.

scientific article published on 10 December 2015

Does the assessment of general movements without video observation reliably predict neurological outcome?

scientific article published on 11 April 2007

Early Assessment of Visual Information Processing and Neurological Outcome in Preterm Infants

scientific article published on 01 October 2006

Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

scientific article published on 6 September 2011

Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

scientific article published on 01 January 2017

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency

scientific article published on 02 February 2017

Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication

scientific article published on 11 March 2016

Four years follow up of ACY1 deficient patient and pedigree study

scientific article published on 10 April 2018

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

scientific article published on 6 July 2011

Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy.

scientific article published on 20 June 2018

G.O.2 Proteomic identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy

article

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

scientific article published on 7 April 2011

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

scientific article published on 30 March 2014

Growth velocity and serum aminoterminal propeptide of type III procollagen in precocious puberty during gonadotropin-releasing hormone analogue treatment

scientific article published on 01 March 1993

HPLC assay for guanidinoacetate methyltransferase

scientific article published in 2004

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families

scientific article published on 22 July 2016

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.

scientific article published on 9 February 2006

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.

scientific article

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

scientific article published on 16 January 2018

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

scientific article

Inborn errors of creatine metabolism and epilepsy ⬇️

scientific article published on November 13, 2012

Inter and intra-rater reliability and minimal detectable difference of Movement Disorder-Childhood Rating Scale.

scientific article published on 13 July 2017

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

scientific article (publication date: July 2014)

Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum

scientific article

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene.

scientific article published on 13 November 2010

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

scientific article published on 15 April 2017

Leukoencephalopathy with bilateral anterior temporal lobe cysts: a further case of this new entity.

scientific article published in October 2002

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

scientific article

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

scientific article published on 25 July 2015

M.P.2.01 Reliability of the north star ambulatory assessment in a multicentric setting

MECP2 duplication phenotype in symptomatic females: report of three further cases.

scientific article published on 28 January 2014

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

scientific article published in August 2007

Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2).

scientific article published in February 2010

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

scientific article published on 2 February 2013

Movement Disorder-Childhood Rating Scale: A Sensitive Tool to Evaluate Movement Disorders

scientific article

Movement disorder-childhood rating scale: reliability and validity

scientific article published in October 2008

Muscle MRI in TRPV4-related congenital distal SMA

scientific article published on 01 January 2012

Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild Becker muscular dystrophy.

scientific article published on 26 September 2011

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

scientific article

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

scientific article published on 01 October 2018

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

scientific article published on 29 August 2016

N.P.2 01 Spinal muscular atrophy: correlation between the number of SMN2 genes and functional ability

article

Neurodevelopmental disorders in children with severe to profound sensorineural hearing loss: a clinical study.

scientific article published on 19 March 2010

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.

scientific article

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

scientific article published on 20 July 2018

Non-invasive assessment of Neuromuscular Disorders by 7 tesla Magnetic Resonance Imaging and Spectroscopy: Dedicated radio-frequency coil development

article

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

scientific article published on 14 July 2010

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

scientific article

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

scientific article published on 17 February 2016

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

scientific article published on 9 January 2013

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

scientific article published in October 2013

P.2.3 Assessment of Upper Limb function in DMD patients: Comparison with normative data

P.2.7 6min walk test 12month changes in DMD: Correlation with genotype

P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies

article

P1.57 Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic population

P3.2 Novel mutation of TRPV4 in congenital distal SMA with vocal cord paralysis

Parathyroid hormone-related protein in healthy pregnant women

scientific article published on 01 March 1994

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

scientific article published on 25 May 2017

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

scientific article

Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry

scientific article

R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome

scientific article published on 03 July 2018

RFT1 deficiency in three novel CDG patients

scientific article

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

scientific article

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia.

scientific article published on 5 August 2015

Reduction of bone density: an effect of gonadotropin releasing hormone analogue treatment in central precocious puberty.

scientific article

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

article

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

scientific article published on 23 June 2009

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.

scientific article

Responsiveness of the MD-childhood rating scale in dyskinetic cerebral palsy patients undergoing anticholinergic treatment

scientific article published on 19 June 2014

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy

scientific article

Revised North Star ambulatory assessment for young boys with Duchenne muscular dystrophy

S.P.4 Functional changes in Duchenne muscular dystrophy: A 24month longitudinal cohort study

Scale for evaluation of movement disorders in the first three years of life

scientific article published in April 2009

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

scientific article

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy

scientific article published on 6 October 2014

T.P.10

T.P.4

TRPV4 mutations in children with congenital distal spinal muscular atrophy

scientific article

The 24-month performance of upper limb (PUL) scale: Changes and steroids correlation in DMD

article by E. Mercuri et al published October 2016 in Neuromuscular Disorders

The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys

scientific article published on 7 October 2014

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

scientific article published on 12 April 2007

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

scientific article

Topical application of 1,25-dihydroxyvitamin D3 (calcitriol) is an effective and reliable therapy to cure skin lesions in psoriatic children

scientific article published on 01 May 1993

Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect

scientific article published in January 2008

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.

scientific article published on 20 June 2018

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

scientific article

Paulina is supported by:

About Paulina

Help