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Literature DB >> 27838833

Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart.

Claudia Stancanelli^1,2,3, Luca Gentile⁴, Gianluca Di Bella⁴, Fabio Minutoli⁵, Massimo Russo⁶, Giuseppe Vita⁴, Anna Mazzeo⁴.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：
Prealbumin

Year: 2016 PMID： 27838833 DOI： 10.1007/s10072-016-2767-7

Source DB: PubMed Journal: Neurol Sci ISSN： 1590-1874 Impact factor: 3.307

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6 in total

1. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans.

Authors: D R Jacobson; R D Pastore; R Yaghoubian; I Kane; G Gallo; F S Buck; J N Buxbaum
Journal: N Engl J Med Date: 1997-02-13 Impact factor: 91.245

2. A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population.

Authors: Taro Yamashita; Kamran Hamidi Asl; Masahide Yazaki; Merrill D Benson
Journal: Amyloid Date: 2005-06 Impact factor: 7.141

3. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients.

Authors: Paul L Swiecicki; David B Zhen; Michelle L Mauermann; Robert A Kyle; Steven R Zeldenrust; Martha Grogan; Angela Dispenzieri; Morie A Gertz
Journal: Amyloid Date: 2015-05-27 Impact factor: 7.141

4. Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M).

Authors: Diana Santos; Teresa Coelho; Miguel Alves-Ferreira; Jorge Sequeiros; Denisa Mendonça; Isabel Alonso; Carolina Lemos; Alda Sousa
Journal: Eur J Hum Genet Date: 2015-08-19 Impact factor: 4.246

5. E2F3 plays an essential role in cardiac development and function.

Authors: Jennifer C King; Ivan P G Moskowitz; Patrick G Burgon; Ferhaan Ahmad; James R Stone; Jonathan G Seidman; Jacqueline A Lees
Journal: Cell Cycle Date: 2008-12-22 Impact factor: 4.534

6. Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area.

Authors: Anna Mazzeo; Massimo Russo; Gianluca Di Bella; Fabio Minutoli; Claudia Stancanelli; Luca Gentile; Sergio Baldari; Scipione Carerj; Antonio Toscano; Giuseppe Vita
Journal: J Neuromuscul Dis Date: 2015-07-22

6 in total

4 in total

Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart.

1. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans.

2. A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population.

3. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients.

4. Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M).

5. E2F3 plays an essential role in cardiac development and function.

6. Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area.

Review 1. Echocardiographic Findings in Cardiac Amyloidosis: Inside Two-Dimensional, Doppler, and Strain Imaging.

2. News on the journal Neurological Sciences in 2017.

3. Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy.

4. Use of Drugs for ATTRv Amyloidosis in the Real World: How Therapy Is Changing Survival in a Non-Endemic Area.