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Jonathan Baets

Showing results (61-70 of 135) with videos related to

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Nature Genetics|October 20, 2009
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Torsten Pamminger, J Christopher Hennings, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 17, 2018
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth diseaseManisha Juneja, Abdelkrim Azmi, Jonathan Baets, et al.
Neurogenetics|March 17, 2010
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotypeDagmara Kabzińska, Halina Strugalska-Cynowska, Anna Kostera-Pruszczyk, et al.
American Journal of Human Genetics|October 6, 2010
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IAnnelies Rotthier, Michaela Auer-Grumbach, Katrien Janssens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2022
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron diseaseAdriana P Rebelo, Ariel Ruiz, Maike F Dohrn, et al.
Neurology. Genetics|September 9, 2016
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)Jennifer Hirst, Marianna Madeo, Katrien Smets, et al.
Brain Communications|March 18, 2024
Dominant <i>NARS1</i> mutations causing axonal Charcot-Marie-Tooth disease expand <i>NARS1</i>-associated diseasesDanique Beijer, Sheila Marte, Jiaxin C Li, et al.
American Journal of Human Genetics|January 4, 2011
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type IChristian Guelly, Peng-Peng Zhu, Lea Leonardis, et al.
Molecular Cell|May 21, 2021
Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human diseaseEvgeniia Prokhorova, Thomas Agnew, Anne R Wondisford, et al.
European Journal of Human Genetics : EJHG|June 22, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel functionMatthis Synofzik, Katherine L Helbig, Florian Harmuth, et al.
Pageof 14

Showing results (61-70 of 135) with videos related to

Sort By:
Pageof 14
Nature Genetics|October 20, 2009
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Torsten Pamminger, J Christopher Hennings, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 17, 2018
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth diseaseManisha Juneja, Abdelkrim Azmi, Jonathan Baets, et al.
Neurogenetics|March 17, 2010
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotypeDagmara Kabzińska, Halina Strugalska-Cynowska, Anna Kostera-Pruszczyk, et al.
American Journal of Human Genetics|October 6, 2010
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IAnnelies Rotthier, Michaela Auer-Grumbach, Katrien Janssens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2022
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron diseaseAdriana P Rebelo, Ariel Ruiz, Maike F Dohrn, et al.
Neurology. Genetics|September 9, 2016
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)Jennifer Hirst, Marianna Madeo, Katrien Smets, et al.
Brain Communications|March 18, 2024
Dominant <i>NARS1</i> mutations causing axonal Charcot-Marie-Tooth disease expand <i>NARS1</i>-associated diseasesDanique Beijer, Sheila Marte, Jiaxin C Li, et al.
American Journal of Human Genetics|January 4, 2011
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type IChristian Guelly, Peng-Peng Zhu, Lea Leonardis, et al.
Molecular Cell|May 21, 2021
Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human diseaseEvgeniia Prokhorova, Thomas Agnew, Anne R Wondisford, et al.
European Journal of Human Genetics : EJHG|June 22, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel functionMatthis Synofzik, Katherine L Helbig, Florian Harmuth, et al.
Pageof 14