Neurology® Genetics. vol. 8 n. 2

Neurology® Genetics. vol. 8 n. 2

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Neurology® Genetics

Año publicación:

2022

En este número

Artículo
Clinical Deep Phenotyping of ABCA7 Mutation Carriers.
Autor/es:
Campbell AS, Ho CCG, Atık M, Allen M, Lincoln S, Malphrus K, Nguyen T, Oatman SR, Corda M, Conway O, Strickland S, Petersen RC, Dickson DW, Graff-Radford NR, Ertekin-Taner N.
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e655
Artículo
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2.
Autor/es:
Leonardis L, Skrjanec Pusenjak M, Maver A, Jaklic H, Ozura Brecko A, Koritnik B, Peterlin B, Writzl K.
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e658
Artículo
Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome.
Autor/es:
Hippen M, Zsurka G, Peeva V, Machts J, Schwiecker K, Debska-Vielhaber G, Wiesner RJ, Vielhaber S, Kunz WS.
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e660
Artículo
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.
Autor/es:
Misko AL, Wood LB, DeBono M, Oberman R, Raas-Rothschild A, Grishchuk Y, Eichler F.
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e662
Artículo
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Autor/es:
Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L...
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e664
Artículo
ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion.
Autor/es:
Laaksovirta H, Launes J, Jansson L, Traynor BJ, Kaivola K, Tienari PJ.
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e665
Artículo
Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.
Autor/es:
Frasca A, Pavlidou E, Bizzotto M, Gao Y, Balestra D, Pinotti M, Dahl HA, Mazarakis ND, Landsberger N, Kinali M.
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e666
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features.
Autor/es:
Chen YL, Chen DF, Ke HZ, Zhao SY, Li HF, Wu ZY.
Clinical/Scientific Notes
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e659
Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.
Autor/es:
Nicita F, Travaglini L, Bombelli F, Tosi M, Pro S, Bertini E, D'Amico A...
Clinical/Scientific Notes
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e661
Artículo de revisión
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion.
Autor/es:
van der Knaap MS, Bonkowsky JL, Vanderver A, Schiffmann R, Krägeloh-Mann I, Bertini E, Bernard G, Fatemi SA, Wolf NI, Saunier-Vivar E, Rauner R, Dekker H, van Bokhoven P, van de Ven P, Leferink PS.
Views & Reviews
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e657
Correction
Correction for: Daghals I, Sargurupremraj M, Danning R, Gormley P, Malik R, Amouyel P, Metso T, Pezzini A, Kurth T, Debette S, Chasman D. Migraine, Stroke, and Cervical Arterial Dissection: Shared Genetics for a Triad of Brain Disorders With Vascular Involvement. Neurol Genet. 2022 Feb 1;8(1):e653...
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 2
https://ng.neurology.org/content/8/2/e663

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Neurology® Genetics. vol. 8 n. 2

Neurology® Genetics. vol. 8 n. 2

En este número

Clinical Deep Phenotyping of ABCA7 Mutation Carriers.

Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2.

Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome.

Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion.

Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features.

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.

Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion.

Correction

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