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Neurogenetics
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January 16, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorder
Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, et al.
The Journal of Biological Chemistry
|
June 14, 2015
Functional Diversity of Haloacid Dehalogenase Superfamily Phosphatases from Saccharomyces cerevisiae: BIOCHEMICAL, STRUCTURAL, AND EVOLUTIONARY INSIGHTS
Ekaterina Kuznetsova, Boguslaw Nocek, Greg Brown, et al.
Annals of Clinical and Translational Neurology
|
January 23, 2020
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction
Nicole I Wolf, Marjolein Breur, Bonnie Plug, et al.
Brain : a Journal of Neurology
|
August 11, 2022
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy
Michelle C do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, et al.
Neurology
|
September 22, 2017
<i>UFM1</i> founder mutation in the Roma population causes recessive variant of H-ABC
Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, et al.
Journal of Bacteriology
|
July 24, 2001
Genome sequence and comparative analysis of the solvent-producing bacterium Clostridium acetobutylicum
J Nölling, G Breton, M V Omelchenko, et al.
Orphanet Journal of Rare Diseases
|
February 15, 2022
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
Daphne H Schoenmakers, Shanice Beerepoot, Sibren van den Berg, et al.
American Journal of Human Genetics
|
March 20, 2012
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome
Anna Schossig, Nicole I Wolf, Christine Fischer, et al.
Genome Biology
|
February 5, 2004
A comprehensive evolutionary classification of proteins encoded in complete eukaryotic genomes
Eugene V Koonin, Natalie D Fedorova, John D Jackson, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy
Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.
Page
of 90
Search research articles
Search
Showing results (801-810 of 898) with videos related to
Sort By:
Page
of 90
Neurogenetics
|
January 16, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorder
Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, et al.
The Journal of Biological Chemistry
|
June 14, 2015
Functional Diversity of Haloacid Dehalogenase Superfamily Phosphatases from Saccharomyces cerevisiae: BIOCHEMICAL, STRUCTURAL, AND EVOLUTIONARY INSIGHTS
Ekaterina Kuznetsova, Boguslaw Nocek, Greg Brown, et al.
Annals of Clinical and Translational Neurology
|
January 23, 2020
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction
Nicole I Wolf, Marjolein Breur, Bonnie Plug, et al.
Brain : a Journal of Neurology
|
August 11, 2022
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy
Michelle C do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, et al.
Neurology
|
September 22, 2017
<i>UFM1</i> founder mutation in the Roma population causes recessive variant of H-ABC
Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, et al.
Journal of Bacteriology
|
July 24, 2001
Genome sequence and comparative analysis of the solvent-producing bacterium Clostridium acetobutylicum
J Nölling, G Breton, M V Omelchenko, et al.
Orphanet Journal of Rare Diseases
|
February 15, 2022
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
Daphne H Schoenmakers, Shanice Beerepoot, Sibren van den Berg, et al.
American Journal of Human Genetics
|
March 20, 2012
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome
Anna Schossig, Nicole I Wolf, Christine Fischer, et al.
Genome Biology
|
February 5, 2004
A comprehensive evolutionary classification of proteins encoded in complete eukaryotic genomes
Eugene V Koonin, Natalie D Fedorova, John D Jackson, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy
Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.
Page
of 90