Lamont Phillipa J - Division of Neurosciences, Royal Perth Hospital

基本信息

浏览量：6

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 59 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

A Common Flanking Variant is Associated with Enhanced Meiotic Stability of the FGF14-SCA27B Locus

NATURE GENETICSno. 7 (2024)

引用0浏览0WOSNATURE引用

Two Novel Variants in PI4KA in a Family Presenting with Hereditary Spastic Paraparesis A Case Report

Jevin M. Parmar,Elyshia L. McNamara,Phillipa J. Lamont,Kishore R. Kumar, Audrey Rick,Marion Stoll,Pak Leng Cheong,Gianina Ravenscroft

NEUROLOGY-GENETICS（2024）

引用0浏览0WOS引用

Neuroradiological Findings in GAA-FGF14 Ataxia (SCA27B): More Than Cerebellar Atrophy

medRxiv the preprint server for health sciences (2024)

引用0浏览0WOS引用

Wai Yan Yau,Catherine Ashton,Eoin Mulroy,Thomas Foltynie,Patricia Limousin, Jana Vandrovcova,Kunal P. Verma,Rick Stell,Mark Davis,Phillipa Lamont

Annals of Clinical and Translational Neurologyno. 6 (2024): 1636-1642

引用0浏览0WOS引用

A CCG Expansion in ABCD3 Causes Oculopharyngodistal Myopathy in Individuals of European Ancestry

Andrea Cortese,Sarah J. Beecroft,Stefano Facchini,Riccardo Curro,Macarena Cabrera-Serrano,Igor Stevanovski,Sanjog R. Chintalaphani,Hasindu Gamaarachchi,Ben Weisburd,Chiara Folland,Gavin Monahan,Carolin K. Scriba,Lein Dofash,Mridul Johari,Bianca R. Grosz,Melina Ellis,Liam G. Fearnley,Rick Tankard,Justin Read,Ashirwad Merve,Natalia Dominik,Elisa Vegezzi, Ricardo P. Schnekenberg,Gorka Fernandez-Eulate,Marion Masingue,Diane Giovannini,Martin B. Delatycki,Elsdon Storey, Mac Gardner,David J. Amor,Garth Nicholson,Steve Vucic,Robert D. Henderson,Thomas Robertson,Jason Dyke,Vicki Fabian, Frank Mastaglia,Mark R. Davis,Marina Kennerson,Ros Quinlivan,Simon Hammans,Arianna Tucci,Melanie Bahlo,Catriona A. McLean,Nigel G. Laing,Tanya Stojkovic,Henry Houlden,Michael G. Hanna,Ira W. Deveson,Paul J. Lockhart,Phillipa J. Lamont,Michael C. Fahey,Enrico Bugiardini,Gianina Ravenscroft,Piraye Oflazer,Nazli A. Basak, Hulya Kayserili, Gozde Yesil,Edoardo Malfatti, James B. Lilliker,Matthew Wicklund,Robert D. S. Pitceathly,Stefen Brady,Bernard Brais,David Pellerin,Stephan Zuchner,Matt C. Danzi,Marina Grandis, Giacomo P. Comi,Stefania P. Corti,Elena Abati,Antonio Toscano,Arianna Manini, Arianna Ghia,Cristina Tassorelli,Ilaria Quartesan,Roberto Simone,Alexander M. Rossor,Mary M. Reilly,Liam Carroll,Volker Straub,Bjarne Udd,Zhiyong Chen,Gisele Bonne

Nature communicationsno. 1 (2024): 6327-6327

引用0浏览0WOSNATURE引用

Non‐GAARepeat Expansions Infgf14are Likely Not Pathogenic—Reply To: “shaking Up Ataxia:FGF14andRFC1Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

David Pellerin,Pablo Iruzubieta,Şeyma Tekgül,Matt C. Danzi,Catherine Ashton,Marie‐Josée Dicaire,Marion Wandzel,Virginie Roth,Phillipa Lamont,Céline Bonnet,Mathilde Renaud,Matthis Synofzik,Stephan Züchner,Bernard Brais,A. Nazlı Başak,Henry Houlden

Movement disordersno. 8 (2023): 1575-1577

引用1浏览0引用

Spinocerebellar Ataxia 27B: Episodic Symptoms and Acetazolamide Response in 34 Patients

Catherine Ashton,Elisabetta Indelicato,David Pellerin,Guillemette Clement,Matt C. Danzi,Marie-Josee Dicaire,Celine Bonnet,Henry Houlden,Stephan Zuechner,Matthis Synofzik,Phillipa J. Lamont,Mathilde Renaud,Sylvia Boesch,Bernard Brais

Brain communications（2023）

引用0浏览0WOS引用

GR.2 A Deep Intronic FGF14 GAA Repeat Expansion Causes Late-Onset Cerebellar Ataxia

David Pellerin, MC Danzi,Carlo Wilke,Mathilde Renaud, Sahar Fazal,Marie‐Josée Dicaire, C. Scriba,Catherine Ashton,Christopher Yanick, Yeisha Arcia,Adriana P. Rebelo, Céline J. Rocca,Zane Jaunmuktane, JA Sonnen, Richard W. Lariviere, David Genı́s, Laura Molina Porcel,Karine Choquet,Rawan Sakalla, Sylvie Provost,Martine Tétreault,Sarah J. Reiling,Sara Nagy,Vikas Nishadham,Meera Purushottam, Shyla Vengalil, Madhu Bardhan,Atchayaram Nalini, Zhong Chen, Jean Mathieu,Rami Massie,CH Chalk, Anne Lafontaine,François Evoy,Marie‐France Rioux,Jiannis Ragoussis,KM Boycott, Marie‐Pierre Dubé,Antoine Duquette,Henry Houlden,Gianina Ravenscroft, N.G. Laing,Phillipa Lamont, MA Saporta, Rebecca Schüle,Lüdger Schöls,Roberta La Piana,Matthis Synofzik,Stephan Züchner,Bernard Brais

Canadian journal of neurological sciences（2023）

引用50浏览0引用

Uncovering the Significance of Expanded CD8+ Large Granular Lymphocytes in Inclusion Body Myositis: Insights into T Cell Phenotype and Functional Alterations, and Disease Severity

Emily McLeish,Anuradha Sooda,Nataliya Slater,Barbara Kachigunda,Kelly Beer,Shereen Paramalingam,Phillipa J. Lamont,Abha Chopra,Frank Louis Mastaglia,Merrilee Needham,Jerome David Coudert

Frontiers in immunology（2023）

引用0浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn