(Q34136382)

31 July 2017

1 reference

title

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness (English)

1 reference

ORCID Public Data File 2021

31 July 2017

1 reference

1 reference

1 reference

1 reference

author name string

Amor DJ

1

1 reference

31 July 2017

Delatycki MB

2

1 reference

31 July 2017

Gardner RJ

3

1 reference

31 July 2017

Storey E

4

1 reference

31 July 2017

language of work or name

1 reference

1 February 2001

1 reference

American Journal of Medical Genetics Part A

31 July 2017

published in

1 reference

31 July 2017

volume

99

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31 July 2017

issue

1

1 reference

31 July 2017

page(s)

29-33

1 reference

Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes' type ataxia).

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

Neurologic anomalies of Perrault syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

Seminiferous tubule dysgenesis (Klinefelter's syndrome) associated with familiar cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

Ataxia-deafness-retardation syndrome in three sisters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

The Perrault syndrome: clinical report and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

The perrault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

A new form of familial ataxia, deafness, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

Familial hypogonadotrophic eunuchoidism with cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C29%3A%3AAID-AJMG1119%3E3.0.CO%3B2-Q

10.1002/1096-8628(20010215)99:1<29::AID-AJMG1119>3.0.CO;2-Q

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference