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Year
Year
-Year
2011
2012
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2014
2015
2016
2017
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2019
Editorial
Rating scales for rare neurological diseases
What are we learning from Friedreich ataxia?
Massimo
Pandolfo
November 25, 2019
Clinical/Scientific Notes
Further supporting evidence for
REEP1
phenotypic and allelic heterogeneity
Reza
Maroofian
,
Mahdiyeh
Behnam
,
Rauan
Kaiyrzhanov
, et al.
November 15, 2019
Article
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Stéphane
Roche
,
Camille
Dion
,
Natacha
Broucqsault
, et al.
November 14, 2019
Article
Spastic paraplegia due to recessive or dominant mutations in
ERLIN2
can convert to ALS
Maria-Del-Mar
Amador
,
François
Muratet
,
Elisa
Teyssou
, et al.
November 13, 2019
Clinical/Scientific Notes
Galloping tongue syndrome in a
PRRT2
mutation carrier
Dolores
Vilas
,
Anna
Marcé-Grau
,
Alfons
Macaya
, et al.
November 12, 2019
Article
Identification of
TYW3/CRYZ
and
FGD4
as susceptibility genes for amyotrophic lateral sclerosis
Ling
Wei
,
Yanghua
Tian
,
Yongping
Chen
, et al.
November 08, 2019
Clinical/Scientific Notes
Myelopathy in a patient with leukodystrophy due to
CSF1R
mutation
Victoria M.
Ho
,
Dominic A.
Hovsepian
,
Perry B.
Shieh
November 08, 2019
Article
GNA11
brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis
Joseph M.
Sliepka
,
Sarah C.
McGriff
,
Linda Z.
Rossetti
, et al.
October 30, 2019
Article
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic
POLR1C
pathogenic variants
Laurence
Gauquelin
,
Ferdy K.
Cayami
,
László
Sztriha
, et al.
October 30, 2019
Article
CNS manifestations in patients with telomere biology disorders
Sonia
Bhala
,
Ana F.
Best
,
Neelam
Giri
, et al.
October 29, 2019
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