Research map: Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
· Sue M. Richards · 2015 · 33500 citations · Cited by this paper
Spätmanifestation des Morbus Tay-Sachs – eine Erkrankung des Kleinhirns und der Motoneuronen mit psychiatrischen Folgen
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· Bruce R. Fischl · 2000 · 6103 citations · Cited by this paper
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· Bruce R. Fischl · 2003 · 4516 citations · Cited by this paper
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· Bruce R. Fischl · 1999 · 3365 citations · Cited by this paper
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· Tom N. Tombaugh · 2003 · 3284 citations · Cited by this paper
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· Jeremy Dan Schmahmann · 1998 · 3262 citations · Cited by this paper
Automated manifold surgery: constructing geometrically accurate and topologically correct models of the human cerebral cortex
· Bruce R. Fischl · 2001 · 1834 citations · Cited by this paper
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· Frances M. Platt · 2018 · 1036 citations · Cited by this paper
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
· Ahmad N. Abou Tayoun · 2018 · 948 citations · Cited by this paper
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· National Cancer Institute · 2020 · 872 citations · Cited by this paper
Concurrent related validity of the GAITRite® walkway system for quantification of the spatial and temporal parameters of gait
· Belinda Bilney · 2003 · 740 citations · Cited by this paper
Reliability of the GAITRite® walkway system for the quantification of temporo-spatial parameters of gait in young and older people
· Hylton B. Menz · 2003 · 680 citations · Cited by this paper
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
· Sarah E. Brnich · 2019 · 669 citations · Cited by this paper
Adult Norms for a Commercially Available Nine Hole Peg Test for Finger Dexterity
· Kimatha Oxford Grice · 2003 · 624 citations · Cited by this paper
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
· Vikas Rao Pejaver · 2022 · 598 citations · Cited by this paper
The cerebellar cognitive affective/Schmahmann syndrome scale
· Franziska Hoche · 2017 · 496 citations · Cited by this paper
Cerebellar Cognitive Affective Syndrome
· Jeremy Dan Schmahmann · 1997 · 367 citations · Cited by this paper
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
· Logan C. Walker · 2023 · 357 citations · Cited by this paper
Timed Up and Go (TUG) Test
· Breelan Kear · 2016 · 282 citations · Cited by this paper
Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS
· Jeremy Dan Schmahmann · 2009 · 260 citations · Cited by this paper
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.
· Rachel Myerowitz · 1988 · 231 citations · Cited by this paper
The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported
· Gustavo H. B. Maegawa · 2006 · 204 citations · Cited by this paper
Natural History of Infantile GM2 Gangliosidosis
· Annette E. Bley · 2011 · 168 citations · Cited by this paper
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· Jan Voogd · 2005 · 158 citations · Cited by this paper
AAV gene therapy for Tay-Sachs disease
· Terence R. Flotte · 2022 · 141 citations · Cited by this paper
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