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Gonorazky, Hernan D.
68  results:
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1

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/..
 
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2

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/..
 
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3

Recommendations for the Management of Initial and Refractor..:

Vogt, Lindsey M. ; Yang, Kathryn ; Tse, Gabriel...
Movement Disorders.  , 2024
Link: https://doi.org/10.1002/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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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/..
 
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14

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/..
 
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15

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/..
 
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