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Year
Year
-Year
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2014
2015
2016
2017
2018
2019
2020
Clinical/Scientific Notes
Fatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplant
Ross C.
Puffer
,
Robert J.
Spinner
,
Hongyan
Bi
, et al.
August 14, 2019
Article
Impaired kidney structure and function in spinal muscular atrophy
Flávia C.
Nery
,
Jennifer J.
Siranosian
,
Ivy
Rosales
, et al.
August 12, 2019
Article
New family with
HSPB
8-associated autosomal dominant rimmed vacuolar myopathy
Sejad
Al-Tahan
,
Lan
Weiss
,
Howard
Yu
, et al.
July 10, 2019
Article
Genetic risk of Parkinson disease and progression:
An analysis of 13 longitudinal cohorts
Hirotaka
Iwaki
,
Cornelis
Blauwendraat
,
Hampton L.
Leonard
, et al.
July 09, 2019
Article
Novel mutation in
HTRA1
in a family with diffuse white matter lesions and inflammatory features
Amin
Ziaei
,
Xiaohong
Xu
,
Leila
Dehghani
, et al.
July 08, 2019
Article
MAPT
p.V363I mutation
A rare cause of corticobasal degeneration
Sarah
Ahmed
,
Monica Diez
Fairen
,
Marya S.
Sabir
, et al.
June 25, 2019
Clinical/Scientific Notes
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing
Martin
Krenn
,
Ivan
Milenkovic
,
Gertrud
Eckstein
, et al.
June 25, 2019
Article
Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease
Juan I.
Young
,
Sathesh K.
Sivasankaran
,
Lily
Wang
, et al.
June 24, 2019
Article
Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy
Asfia
Quadir
,
Carly Sabine
Pontifex
,
Helen
Lee Robertson
, et al.
June 12, 2019
Article
Altered CSF levels of monoamines in hereditary spastic paraparesis 10
A case series
Mattias
Andréasson
,
Kristina
Lagerstedt-Robinson
,
Kristin
Samuelsson
, et al.
June 12, 2019
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