Faculty profile

Roberta La Piana

ResearcherNeurology and NeurosurgeryMcGill University

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a McGill University directory, so their courses may be missing. Find their university profile.

Roberta La Piana

Researcher

Neurology and Neurosurgery

Health Sciences

McGill University

Montreal, Quebec, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
30 publications in the last five years, latest in 2026.
Senior (last) author on 9 recent papers, a sign of leading a research group.
Principal investigator on 1 research grant (1 CIHR), most recently in 2023.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

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Publications

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Grants

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

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Signals and details

Research

Gene Discovery Leukodystrophies Mri Next Generation Sequencing Rare Diseases White Matter Diseases

Latest papers

A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders.
Journal of molecular neuroscience : MN · 2026
Toward a Neuroimaging Consensus for the Work-up of Adult Genetic Leukoencephalopathies on Behalf of the White Matter Rounds Network: State of Practice.
AJNR. American journal of neuroradiology · 2026 · senior author
The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.
Movement disorders : official journal of the Movement Disorder Society · 2026

All 61 publications

Latest funding

Uniting Canada's Leukodystrophy Community: The CARELeuko Mandate to Drive Collaboration and Accelerate Research and Care
CIHR · 2025 · Co-investigator
$20,000
Novel forms of adult genetic white matter disorders: clinical-radiological phenotyping and identification of causal genes.
CIHR · 2023 · Nominated PI
$707,625

All 2 grants and awards

61 publications.

A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders.

Treccarichi S, Vinci M, Figura MG, Musumeci A, Virgillito M, Papa C, Chiavetta V, Brancato D, Bruno F, Federico C, Simo J, La Piana R, Saccone S, Calì F

Journal of molecular neuroscience : MN2026

DOI: 10.1007/s12031-026-02557-2 PMID: 42274819

Toward a Neuroimaging Consensus for the Work-up of Adult Genetic Leukoencephalopathies on Behalf of the White Matter Rounds Network: State of Practice.

Wong AD, Airas L, Alvarez E, Antel J, Araujo D, Bernard G, Boudjani H, Brais B, Cocozza S, Corboy JR, Fadda G, Imitola J, Lacasse MC, Longbrake EE, Macaron G, Narayanan S, Orthmann-Murphy J, Ortiz J, Shor N, Uggetti C, Venkateswaran S, Wilson N, Miller E, La Piana R, White Matter (WM) Rounds Network

AJNR. American journal of neuroradiology2026Senior author

DOI: 10.3174/ajnr.a9127 PMID: 41371978

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.

Fortin J, Synofzik M, Pedneault-Tremblay ÉA, Hermle D, Thieme A, Timmann D, La Piana R, Brais B, Dolbec J, Côté I, Gagnon C, Traschütz A

Movement disorders : official journal of the Movement Disorder Society2026

DOI: 10.1002/mds.70201 PMID: 41669957

"Subthreshold" Expansions in Individuals With Otherwise-Typical Clinicoradiological Features of GAA-FGF14-Related Cerebellar Ataxia (SCA27B).

Beh YY, La Piana R, Tay YW, Chua JP, Hamid RIA, Tee JWY, Lee AL, Sahak AMA, Schee JP, Goh KJ, Iruzubieta P, Tan AH, Pellerin D, Lim SY

Journal of movement disorders2026

DOI: 10.14802/jmd.25290 PMID: 41367183

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative.

Chapleau A, Le A, Simo J, Venkateswaran S, Lacaze-Masmonteil T, Piscopo VEC, Gauthier S, Villa Tobón F, Alam SS, Lentini L, Brais B, Ernst C, Mitchell JJ, Vinh DC, Zhou Y, Kennedy TE, Goloff N, Riham B, Chapleau R, Smith B, Greger V, Della Rocca J, Louis LM, Dike A, McIntyre LL, McIntyre DF, Tardif J, Lapointe É, Barnett J, Loignon V, Bardai G, Contant S, Durcan TM, La Piana R, Bernard G, as RareKids-CAN, RARE.Qc, CARELeuko

Neurology. Genetics2025

DOI: 10.1212/nxg.0000000000200313 PMID: 41143125

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Simo J, Lugar HM, Miller E, Wilf-Yarkoni A, Goldberg Y, Kocaağa A, Ito S, Cocozza S, Frontino G, Baldoli C, Benbachir A, Ashton C, Rouleau GA, Hershey T, Nadjar Y, La Piana R

Frontiers in neurology2025Senior author

DOI: 10.3389/fneur.2025.1623314 PMID: 41245872

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.

Varesio C, Politano D, Adang L, Ballante E, Battini R, Bertini E, Borgatti R, De Giorgis V, Del Boca A, Dragoni F, Fazzi E, Galli J, Garau J, Gavazzi F, Gardani A, La Piana R, Moroni I, Nicita F, Pichiecchio A, Pini A, Ricci F, Sartori S, Tonduti D, Vanderver A, Orcesi S

Pediatric neurology2025

DOI: 10.1016/j.pediatrneurol.2025.07.011 PMID: 40812004

Cerebellar Ataxia Due to FGF14 GAA Repeat Expansion: First Southeast Asian Case and Novel Neuroimaging Features.

Sahak AMA, Tan AH, Ramli N, Tay YW, Lit LC, Chua JP, La Piana R, Pellerin D, Lim SY

Journal of movement disorders2025

DOI: 10.14802/jmd.25163 PMID: 40744716

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Iruzubieta P, Pellerin D, Ashton C, Villa F, Renaud M, Dicaire MJ, Danzi MC, Aldecoa M, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Brisson JD, Boycott KM, Houlden H, Synofzik M, La Piana R, Zuchner S, Duquette A, Brais B

Journal of neurology2025

DOI: 10.1007/s00415-025-13387-4 PMID: 40974444

Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature.

Mandia D, Shor N, Carlson AK, Obusez E, Cohen JA, Fenu S, Salsano E, La Piana R, Durães J, Faustino P, Deschamps R, Bensa C, de Pemille CV, Maillart E, Papeix C, Macaron G, Nadjar Y

Multiple sclerosis and related disorders2025

DOI: 10.1016/j.msard.2025.106439 PMID: 40446704

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Roberta La Piana

Research

Latest papers

Latest funding

A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders.

Toward a Neuroimaging Consensus for the Work-up of Adult Genetic Leukoencephalopathies on Behalf of the White Matter Rounds Network: State of Practice.

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.

"Subthreshold" Expansions in Individuals With Otherwise-Typical Clinicoradiological Features of GAA-FGF14-Related Cerebellar Ataxia (SCA27B).

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative.

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Gouti&#xe8;res Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.

Cerebellar Ataxia Due to FGF14 GAA Repeat Expansion: First Southeast Asian Case and Novel Neuroimaging Features.

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature.

Uniting Canada's Leukodystrophy Community: The CARELeuko Mandate to Drive Collaboration and Accelerate Research and Care

Novel forms of adult genetic white matter disorders: clinical-radiological phenotyping and identification of causal genes.

Frequent collaborators

Bernard Brais

Jacek Majewski

Antoine Duquette

Guy Rouleau

Geneviève Bernard

Jack Antel

Karine Choquet

Eriskay Liston

Myriam Srour

Claudia Martinez-Rios

Daniela Pohl

Nagwa Wilson

Adam Kirton

Ridha Joober

Adam Kirton

Elsa Rossignol

Carl Ernst

Maryam Oskoui

Sridar Narayanan

Thierry Lacaze-Masmonteil

Cecilia Flores

Cynthia Gagnon

Bernard Brais

Franco Lepore

YANG ZHOU

Myriam Srour

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.