R. La Piana

发表

Neural function in DCC mutation carriers with and without mirror movements

Sylvia M. L. Cox, Á. Pascual-Leone, M. Fox, 2019, Annals of neurology.

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.

C. Laule, F. Viader, N. Pyatigorskaya, 2019, Neurology.

Brain Reorganization after Endovascular Treatment in a Patient with a Large Arteriovenous Malformation: The Role of Diagnostic and Functional Neuroimaging Techniques

D. Klein, K. Mok, D. Tampieri, 2013, Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences.

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

A. Vanderver, F. Barkhof, I. Harting, 2017, Neuropediatrics.

Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up

Y. Crow, S. Orcesi, E. Fazzi, 2009, American Journal of Neuroradiology.

The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings

A. Pichiecchio, L. Chiapparini, S. Orcesi, 2020, Seizure.

Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort

R. Borgatti, S. Orcesi, F. Manzoni, 2022, Italian Journal of Pediatrics.

Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants.

S. Orcesi, R. La Piana, B. Gardella, 2021, Pediatric neurology.

B. Coulombe, B. Brais, M. Gauthier, 2021, Faculty reviews.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

K., Stevens, A. Vanderver, 2020, The Journal of clinical endocrinology and metabolism.

COVID-19 and disease-modifying therapies in patients with demyelinating diseases of the central nervous system: A systematic review

M. Sahraian, J. Antel, R. La Piana, 2021, Multiple Sclerosis and Related Disorders.

The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders

B. Brais, L. Airas, G. Bernard, 2022, Frontiers in Neurology.

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

Y. Crow, R. Biancheri, S. Orcesi, 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

G. Comi, A. Pichiecchio, S. Orcesi, 2011, Journal of child neurology.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

J. Ragoussis, R. Schüle, L. Schöls, 2022, The New England journal of medicine.

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

A. Vanderver, Y. Crow, S. Orcesi, 2016, Neurology.

COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification

Y. Crow, S. Orcesi, D. Doherty, 2011, Neuropediatrics.

Cortical and subcortical morphological alterations in motor subtypes of Parkinson’s disease

Daihong Liu, Jiuquan Zhang, Yuanchao Zhang, 2022, npj Parkinson's Disease.

Spastic Paraparesis and Marked Improvement of Leukoencephalopathy in Aicardi–Goutières Syndrome

B. Brais, S. Lévesque, G. Bernard, 2014, Neuropediatrics.

Bilateral striatal necrosis in two subjects with Aicardi–Goutières syndrome due to mutations in ADAR1 (AGS6)

S. Orcesi, E. Fazzi, U. Balottin, 2014, American journal of medical genetics. Part A.

The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload.

C. Cartiglia, A. Izzotti, S. Orcesi, 2011, Mutation research.

Recovery of visual functions after early acquired occipital damage

E. Fazzi, R. La Piana, S. Signorini, 2008, Developmental medicine and child neurology.

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

B. Brais, M. Guiot, R. La Piana, 2014, neurogenetics.

3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation

B. Brais, G. Pike, D. Tampieri, 2018, Journal of Clinical Neuroscience.

Assessment of clot length with multiphase CT angiography in patients with acute ischemic stroke

D. Tampieri, V. Polito, R. La Piana, 2017, The neuroradiology journal.

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series

S. Lévesque, N. Braverman, G. Bernard, 2022, neurogenetics.

Spectrum of Visual Disorders in Children With Cerebral Visual Impairment

E. Fazzi, R. La Piana, S. Signorini, 2007, Journal of child neurology.

C. Cartiglia, M. Longobardi, A. Izzotti, 2009, Brain pathology.

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia

B. Brais, R. La Piana, Karine Choquet, 2015, neurogenetics.

Diffuse hypomyelination is not obligate for POLR3-related disorders

A. Vanderver, D. Timmann, T. Haack, 2016, Neurology.

POLR3A and POLR3B Mutations in Unclassified Hypomyelination

M. S. van der Knaap, G. Bernard, R. La Piana, 2015, Neuropediatrics.

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.

A. Vanderver, B. Brais, M. S. van der Knaap, 2012, Archives of neurology.

Long-Standing Psychiatric Features as the Only Clinical Presentation of Vanishing White Matter Disease.

B. Brais, D. Tampieri, R. La Piana, 2019, The Journal of Neuropsychiatry and Clinical Neurosciences.

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.

A. Vanderver, F. Barkhof, I. Harting, 2017, Neuropediatrics.

Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation

B. Brais, R. La Piana, M. Dicaire, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Speech Reorganization after an AVM Bleed Cured by Embolization

D. Klein, D. Tampieri, R. La Piana, 2009, Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences.

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

E. Shoubridge, B. Brais, K. Boycott, 2016, Brain : a journal of neurology.

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

J. Bouchard, B. Brais, G. Rouleau, 2015, European Journal of Human Genetics.

Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period

C. Tinelli, S. Orcesi, F. Manzoni, 2021, Scientific Reports.

Neurodevelopmental outcome of preterm very low birth weight infants born from 2005 to 2007.

C. Tinelli, S. Orcesi, G. Perotti, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

E. Shoubridge, B. Brais, Woranontee Weraarpachai, 2017, neurogenetics.

Calcifying leukoencephalopathies: New overlapping phenotypes

S. Orcesi, R. La Piana, D. Tonduti, 2012, American journal of medical genetics. Part A.

Response to Correspondence on “Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy”

G. Comi, S. Orcesi, R. La Piana, 2011 .

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

E. Bertini, A. Pichiecchio, N. Nardocci, 2019, Journal of clinical medicine.

Reply:

R. La Piana, C. Uggetti, 2010, American Journal of Neuroradiology.

BRAIN DAMAGE AS DETECTED BY cDNA-MICROARRAY IN THE SPINAL FLUID OF PATIENTS WITH AICARDI-GOUTIÈRES SYNDROME

C. Cartiglia, M. Longobardi, A. Izzotti, 2008, Neurology.