(Q38023325)

27 August 2017

title

Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias (English)

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27 August 2017

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Zuleima Yáñez

5

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Samuel Ignacio Pascual

object named as

Samuel Ignacio Pascual

6

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author name string

Conceição Bettencourt

1

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27 August 2017

Beatriz Quintáns

2

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27 August 2017

Raquel Ros

3

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27 August 2017

Israel Ampuero

4

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27 August 2017

Justo García de Yébenes

7

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27 August 2017

María-Jesús Sobrido

8

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27 August 2017

publication date

16 July 2012

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27 August 2017

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27 August 2017

volume

33

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27 August 2017

issue

9

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27 August 2017

page(s)

1315-1323

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Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3.

27 August 2017

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Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

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[A case of spinocerebellar ataxia type 2 presenting with a clinical course similar to spastic paraparesis].

21 January 2018

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Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

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21 January 2018

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7 January 2021

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

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7 January 2021

Hereditary spastic paraplegia

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https://api.crossref.org/works/10.1002%2FHUMU.22148

7 January 2021

Friedreich's ataxia presenting as adult-onset spastic paraparesis

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7 January 2021

Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds

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7 January 2021

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation

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7 January 2021

Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype

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https://api.crossref.org/works/10.1002%2FHUMU.22148

7 January 2021

Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy

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7 January 2021

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7 January 2021

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

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7 January 2021

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family

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https://api.crossref.org/works/10.1002%2FHUMU.22148

7 January 2021

Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia

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https://api.crossref.org/works/10.1002%2FHUMU.22148

7 January 2021

Late-Onset Friedreich's Ataxia Presenting as a Spastic Paraparesis

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https://api.crossref.org/works/10.1002%2FHUMU.22148

7 January 2021

Identification of a new form of autosomal dominant spastic paraplegia

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https://api.crossref.org/works/10.1002%2FHUMU.22148

7 January 2021

Machado-Joseph disease versus hereditary spastic paraplegia: case report

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https://api.crossref.org/works/10.1002%2FHUMU.22148

7 January 2021

Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic

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7 January 2021

Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22148

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27 August 2017

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