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A peer-reviewed clinical and translational neurology open access journal
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Year
-Year
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2019
Article
X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
Deborah A.
Hall
,
Erin E.
Robertson-Dick
,
Joan A.
O'Keefe
, et al.
February 03, 2016
Article
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of
STIM1
Hidehiko
Okuma
,
Fumiaki
Saito
,
Jun
Mitsui
, et al.
February 01, 2016
Clinical/Scientific Notes
White matter lesions in FTLD: distinct phenotypes characterize
GRN
and
C9ORF72
mutations
Fatima
Ameur
,
Olivier
Colliot
,
Paola
Caroppo
, et al.
January 28, 2016
Clinical/Scientific Notes
Expanding the ataxia with oculomotor apraxia type 4 phenotype
Martin
Paucar
,
Helena
Malmgren
,
Malcolm
Taylor
, et al.
January 21, 2016
Article
Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy
Mikko
Muona
,
Yuko
Fukata
,
Anna-Kaisa
Anttonen
, et al.
January 21, 2016
Clinical/Scientific Notes
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
Lance H.
Rodan
,
Maria
Zak
,
James
Stavropoulos
, et al.
January 14, 2016
Article
Overlap between Parkinson disease and Alzheimer disease in
ABCA7
functional variants
Karen
Nuytemans
,
Lizmarie
Maldonado
,
Aleena
Ali
, et al.
January 14, 2016
Article
Segregation of a rare
TTC3
variant in an extended family with late-onset Alzheimer disease
Martin A.
Kohli
,
Holly N.
Cukier
,
Kara L.
Hamilton-Nelson
, et al.
January 14, 2016
Article
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery
Karen L.
Oliver
,
Vesna
Lukic
,
Saskia
Freytag
, et al.
January 14, 2016
Article
Atypical parkinsonism caused by Pro105Leu mutation of prion protein
A broad clinical spectrum
Kagari Koshi
Mano
,
Takashi
Matsukawa
,
Jun
Mitsui
, et al.
January 07, 2016
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