4.2 Article

Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec

Related references

Note: Only part of the references are listed.
Article Medicine, General & Internal

Spinocerebellar ataxia

Thomas Klockgether et al.

NATURE REVIEWS DISEASE PRIMERS (2019)

Article Clinical Neurology

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Angelica D'Amore et al.

FRONTIERS IN NEUROLOGY (2018)

Article Neurosciences

Epidemiology of Cerebellar Diseases and Therapeutic Approaches

Michael S. Salman

CEREBELLUM (2018)

Article Clinical Neurology

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach

Daniela Burguez et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2017)

Article Multidisciplinary Sciences

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Zafar Iqbal et al.

PLOS ONE (2017)

Article Clinical Neurology

A recessive ataxia diagnosis algorithm for the next generation sequencing era

Mathilde Renaud et al.

ANNALS OF NEUROLOGY (2017)

Article Genetics & Heredity

Clinical and genetic study of hereditary spastic paraplegia in Canada

Nicolas Chrestian et al.

NEUROLOGY-GENETICS (2017)

Article Biochemistry & Molecular Biology

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

Karine Choquet et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

Neven Maksemous et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2016)

Article Genetics & Heredity

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Myriam Srour et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Clinical Neurology

Prevalence of neurogenetic disorders in the North of England

David Bargiela et al.

NEUROLOGY (2015)

Review Public, Environmental & Occupational Health

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

Luis Ruano et al.

NEUROEPIDEMIOLOGY (2014)

Article Clinical Neurology

Diversity of ARSACS Mutations in French-Canadians

I. Thiffault et al.

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2013)

Article Clinical Neurology

Novel CACNA1A mutation(s) associated with slow saccade velocities

Stefan Kipfer et al.

JOURNAL OF NEUROLOGY (2013)

Article Clinical Neurology

Hereditary Ataxia and Spastic Paraplegia in Portugal A Population-Based Prevalence Study

Paula Coutinho et al.

JAMA NEUROLOGY (2013)

Review Clinical Neurology

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

Josef Finsterer et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2012)

Article Neurosciences

Novel and recurrent spastin mutations in a large series of SPG4 Italian families

L. Nanetti et al.

NEUROSCIENCE LETTERS (2012)

Article Genetics & Heredity

Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum

Sha Tang et al.

JOURNAL OF MEDICAL GENETICS (2011)

Article Clinical Neurology

Hereditary ataxias and paraplegias in Valle ďAosta, Italy: a study of prevalence and disability

M. Leone et al.

ACTA NEUROLOGICA SCANDINAVICA (2010)

Article Clinical Neurology

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

Russell P. Saneto et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2010)

Article Clinical Neurology

Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients

M. Tazir et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2009)

Article Public, Environmental & Occupational Health

The Prevalence of Hereditary Spastic Paraplegia and the Occurrence of SPG4 Mutations in Estonia

Mark Braschinsky et al.

NEUROEPIDEMIOLOGY (2009)

Article Genetics & Heredity

Autosomal dominant hereditary spastic paraplegia:: Novel mutations in the REEP1 gene (SPG31)

Katharina J. Schlang et al.

BMC MEDICAL GENETICS (2008)

Article Biochemistry & Molecular Biology

A novel genomic disorder:: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix-Saguenay

Jeroen Breckpot et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2008)

Article Clinical Neurology

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

Nicolas Dupre et al.

ANNALS OF NEUROLOGY (2007)

Article Clinical Neurology

Characterization of a novel SPG3A deletion in a French-Canadian family

Inge A. Meijer et al.

ANNALS OF NEUROLOGY (2007)

Article Genetics & Heredity

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

Francois Gros-Louis et al.

NATURE GENETICS (2007)

Article Clinical Neurology

Clinical features of hereditary spastic paraplegia due to spastin mutation

C. J. McDermott et al.

NEUROLOGY (2006)

Article Clinical Neurology

Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic

S Kraft et al.

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2005)

Article Clinical Neurology

Mutations in senataxin responsible for Quebec cluster of atria with neuropathy

A Duquette et al.

ANNALS OF NEUROLOGY (2005)

Article Clinical Neurology

Population based study of late onset cerebellar ataxia in south east Wales

MB Muzaimi et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2004)

Article Public, Environmental & Occupational Health

Prevalence of inherited ataxias in the province of Padua, Italy

M Zortea et al.

NEUROEPIDEMIOLOGY (2004)

Article Clinical Neurology

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia

G El Euch-Fayache et al.

ARCHIVES OF NEUROLOGY (2003)

Article Genetics & Heredity

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

IK Svenson et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2001)