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Gonorazky, Hernan
68
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Online (68)
Mediatypes
Articles (Online) (45)
OpenAccess-fulltext (23)
Sorted by: Relevance
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1
Recommendations for the Management of Initial and Refractor..:
Vogt, Lindsey M.
;
Yang, Kathryn
;
Tse, Gabriel
...
Movement Disorders. , 2024
Link:
https://doi.org/10.1002/..
?
2
A novel deep intronic variant in LAMA2 identified by RNA se..:
Djordjevic, Djurdja
;
Alawneh, Issa
;
Amburgey, Kimberly
...
Neuromuscular Disorders. 39 (2024) - p. 19-23 , 2024
Link:
https://doi.org/10.1016/..
?
3
The emerging spectrum of neurodevelopmental comorbidities i..:
Baranello, Giovanni
;
Roy, Susana Quijano
;
Servais, Laurent
...
European Journal of Paediatric Neurology. 48 (2024) - p. 67-68 , 2024
Link:
https://doi.org/10.1016/..
?
4
Expanding the spectrum of LAMB2: Pierson syndrome associate..:
Paiz, Freddy
;
Alawneh, Issa
;
Nigro, Elisa
.
Neuromuscular Disorders. 39 (2024) - p. 30-32 , 2024
Link:
https://doi.org/10.1016/..
?
5
Biallelic pathogenic variants in the mitochondrial form of ..:
Sondheimer, Neal
;
Aleman, Alberto
;
Cameron, Jessie
...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100182 , 2023
Link:
https://doi.org/10.1016/..
?
6
Feasibility of a home-based exergame therapy for youth with..:
Iraqi, Ihsane
;
Selby, Kathy
;
Herzig, David
...
Journal of the Neurological Sciences. 455 (2023) - p. 122029 , 2023
Link:
https://doi.org/10.1016/..
?
7
CAMK4‐related Case of Hyperkinetic Movement Disorder:
Alawneh, Issa
;
Amburgey, Kimberley
;
Gonorazky, Hernan
.
Movement Disorders Clinical Practice. 10 (2023) 4 - p. 707-709 , 2023
Link:
https://doi.org/10.1002/..
?
8
P452: Specifying the ACMG/AMP variant sequence interpretati..:
DiStefano, Marina
;
Webb, Ryan
;
McCurry, Hannah
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100499 , 2023
Link:
https://doi.org/10.1016/..
?
9
Sleep disordered breathing in infants identified through ne..:
Chiang, Jackie
;
Xiao, Lena
;
Nigro, Elisa
...
Sleep Medicine. 111 (2023) - p. 161-169 , 2023
Link:
https://doi.org/10.1016/..
?
10
Case report: Hereditary sensory autonomic neuropathy presen..:
O'Hagan-Wong, Kelsey
;
Smith, Dana
;
Gonorazky, Hernan
.
Frontiers in Dental Medicine. 4 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
11
Muscle MRI patterns for limb girdle muscle dystrophies: sys..:
Alawneh, Issa
;
Stosic, Ana
;
Gonorazky, Hernan
Journal of Neurology. 270 (2023) 8 - p. 3946-3957 , 2023
Link:
https://doi.org/10.1007/..
?
12
Titin related myopathy with ophthalmoplegia. A novel phenot..:
Alawneh, Issa
;
Yuki, Kyoko E.
;
Amburgey, Kimberly
...
Neuromuscular Disorders. 33 (2023) 7 - p. 605-609 , 2023
Link:
https://doi.org/10.1016/..
?
13
Case report: A case of spinal muscular atrophy in a preterm..:
Nigro, Elisa
;
Grunebaum, Eyal
;
Kamath, Binita
...
Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
14
Variants in ACTC1 underlie distal arthrogryposis accompanie..:
Chong, Jessica X.
;
Childers, Matthew Carter
;
Marvin, Colby T.
...
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100213 , 2023
Link:
https://doi.org/10.1016/..
?
15
Feasibility of a Home-Based Exergame Therapy for Youth with..:
Oskoui, Maryam
;
Selby, Kathy
;
Herzig, David
...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023
Link:
https://doi.org/10.1212/..
1-15