Variants associated with Gaucher disease in multiple system atrophy (Q35469633)

8 August 2017

Variants associated with Gaucher disease in multiple system atrophy (English)

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8 August 2017

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Alexis Brice

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Tatiana Foroud

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Tatiana Foroud

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Ullrich Wüllner

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object named as

Ullrich Wüllner

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8 August 2017

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Thomas Klockgether

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8 August 2017

Osamu Onodera

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John Q. Trojanowski

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John Q Trojanowski

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8 August 2017

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Nobutaka Hattori

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Eliezer Masliah

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8 August 2017

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Susumu Kusunoki

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8 August 2017

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Caroline M Tanner

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8 August 2017

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Alexandra Dürr

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8 August 2017

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Satoshi Kuwabara

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Kazuko Hasegawa

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Tomoyoshi Kondo

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Mitsutoshi Yamamoto

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Miho Murata

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Walter A Kukull

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Gen Sobue

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8 August 2017

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Akiyoshi Kakita

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Yaeko Ichikawa

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Jun Goto

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Masatoyo Nishizawa

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Hiroyuki Ishiura

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Jun Mitsui

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Wataru Satake

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Mizuki Ito

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Kenichi Yasui

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Masahiro Horiuchi

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Hidetoshi Date

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Budrul Ahsan

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Shigeo Murayama

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Laurie J Ozelius

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8 August 2017

Takashi Matsukawa

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Hidenao Sasaki

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8 August 2017

Ichiro Yabe

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8 August 2017

Masaaki Matsushima

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8 August 2017

Hiroshi Takashima

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8 August 2017

Akio Kikuchi

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8 August 2017

Masashi Aoki

10

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8 August 2017

Tsutomu Yasuda

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8 August 2017

Atsushi Iwata

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8 August 2017

Yasuo Nakahara

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8 August 2017

Yoshio Momose

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8 August 2017

Yuji Takahashi

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8 August 2017

Kenju Hara

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8 August 2017

Mitsunori Yamada

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8 August 2017

Hitoshi Takahashi

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Hirohisa Watanabe

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Kinya Ishikawa

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8 August 2017

Hidehiro Mizusawa

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8 August 2017

Kazuaki Kanai

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8 August 2017

Takamichi Hattori

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8 August 2017

Kimihito Arai

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8 August 2017

Shigeru Koyano

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8 August 2017

Yoshiyuki Kuroiwa

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8 August 2017

Tatsuhiko Yuasa

39

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8 August 2017

Kenji Nakashima

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8 August 2017

Hijiri Ito

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8 August 2017

Yuishin Izumi

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8 August 2017

Ryuji Kaji

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8 August 2017

Takeo Kato

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8 August 2017

Yasushi Osaki

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8 August 2017

Tatsushi Toda

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8 August 2017

Alessandro Filla

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8 August 2017

Garth Nicholson

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8 August 2017

Sid Gilman

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Mathew B Stern

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Virginia M-Y Lee

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Phillip A Low

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Paola Sandroni

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Shoji Tsuji

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8 August 2017

28 February 2015

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Annals of clinical and translational neurology

8 August 2017

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2

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8 August 2017

417-426

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Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Update on novel familial forms of Parkinson's disease and multiple system atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Mutations in COQ2 in familial and sporadic multiple-system atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Simultaneous detection of Gaucher's disease and renal involvement of non-Hodgkin's lymphoma: the first Asian case report and a review of literature.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

The enigma of the E326K mutation in acid β-glucocerebrosidase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

SNCA variants are associated with increased risk for multiple system atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Mutations for Gaucher disease confer high susceptibility to Parkinson disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Second consensus statement on the diagnosis of multiple system atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Parkinsonism among Gaucher disease carriers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Type 2 Gaucher disease: the collodion baby phenotype revisited

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Alpha-synuclein in Lewy bodies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Environmental— occupational risk factors and familial associations in multiple system atrophy: A preliminary investigation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Oligodendroglial Microtubular Tangles in Olivopontocerebellar Atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

No association of GBA mutations and multiple system atrophy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Lewy body diseases and multiple system atrophy as alpha-synucleinopathies.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Alpha-synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402086

Familial aggregation in atypical Parkinson’s disease: a case control study in multiple system atrophy and progressive supranuclear palsy

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FACN3.185

Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies

21 January 2018

1 reference

12 December 2020

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

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12 December 2020

Novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology

1 reference

12 December 2020

Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients

1 reference

12 December 2020

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P

1 reference

12 December 2020

Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

1 reference

12 December 2020

Identifiers

DOI

10.1002/ACN3.185

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8 August 2017

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8 August 2017

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