Neurology® Genetics. vol. 10 n. 3

Neurology® Genetics. vol. 10 n. 3

Volumen:

Veure revista:

Neurology® Genetics

Any publicació:

2024

En aquest número

Acknowledgment to Reviewers
Autor/s:
Pults SM
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.
Autor/s:
Watson S, Ngo KJ, Stevens HA, Wong DY, Kim J, Song Y, Han B, Hyun SI, Khang R, Ryu SW, Lee E, Seo G, Lee H, Lajonchere C, Fogel BL.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology.
Autor/s:
Karadag N, Hagen E, Shadrin AA, van der Meer D, O'Connell KS, Rahman Z, Kutrolli G, Parker N, Bahrami S, Fominykh V, Heuser K, Taubøll E, Steen NE, Djurovic S, Dale AM, Frei O, Andreassen OA, Smeland OB...
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.
Autor/s:
Lee S, Yoon JG, Hong J, Kim T, Kim N, Vandrovcova J, Yau WY, Cho J, Kim S, Kim MJ, Kim SY, Lee ST, Chu K, Lee SK, Kim HJ, Choi J, Moon J, Chae JH.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy.
Autor/s:
Foley AR, Yun P, Leach ME, Neuhaus SB, Averion GV, Hu Y, Hayes LH, Donkervoort S, Jain MS, Waite M, Parks R, Bharucha-Goebel DX, Mayer OH, Zou Y, Fink M, DeCoster J, Mendoza C, Arévalo C, Hausmann R, Petraki D, Cheung K, Bönnemann CG.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls.
Autor/s:
Votsi C, Tomazou M, Nicolaou P, Pantzaris MC, Pitsas G, Adamou A, Kleopa KA, Zamba-Papanicolaou E, Christodoulou K.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.
Autor/s:
Immanneni C, Calame D, Jiao S, Emrick LT, Holmgren M, Yano ST.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.
Autor/s:
Raslan IR, Silva TYT, Kok F, Rodrigues MM, Aragão MM, Pinho RS, França MC Jr, Barsottini OG, Pedroso JL.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity.
Autor/s:
Palmio J, Kiviranta P, Hartikainen PH, Isohanni P, Auranen M, Videman K, Penttilä S, Lehtinen S, Kirjavainen J, Hintikka S, Paloviita K, Saarela J, Udd B.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.
Autor/s:
Alzayed NT, Alzuabi AH, Alqusaimi RA, El-Anany EA, Alholle A, Aboelanine AH, Omar S, Alsafi R, Elmonairy AA, Alali FJ, Alahmad A, Alsharhan H, Albash B, Marafi D.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis.
Autor/s:
Misicka E, Huang Y, Loomis S, Sadhu N, Fisher E, Gafson A, Runz H, Tsai E, Jia X, Herman A, Bronson PG, Bhangale T, Briggs FB.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Article
Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia.
Autor/s:
Ye ZX, Xu HL, Chen NP, Chen XY, Li MC, Yuan RY, Lin W, Qiu L, Lin M, Chen WJ, Wang N, Hu JP, Fu Y, Gan SR; as OSCCAR Investigators.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.
Autor/s:
Parmar JM, McNamara EL, Lamont PJ, Kumar KR, Rick A, Stoll M, Cheong PL, Ravenscroft G.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy.
Autor/s:
Picher-Martel V, Babu S, Amato AA.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.
Autor/s:
Kouhashi M, Yukawa K, Yano N, Hagemeijer MC, Hirata S, Kambe D, Yokoyama A, Yoshida A, Kora K, de Ronde CJ, Vrieswijk S, van der Meijden E, Yoshida T, Yamashita H.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Correction
Correction for : Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F...
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Correction for: Preprint Server Information.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Correction
Correction for : McKnight D, Bristow SL, Truty RM, Morales A, Stetler M, Westbrook MJ, Robinson K, Riethmaier D, Borlot F, Kellogg M, Hwang ST, Berg A, Aradhya S. Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings. Neurol...
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164
Correction & Replacements
Correction & Replacements for: Block AD, Castro MR, Hansen A, Strong C Jr, Hanes E, Schomaker ML, Matheson MJ, Hill A, Peterson A, Henderson JN, Mantyh WG. APOE ε4 Allele Frequency Among Cognitively Healthy Members of an Ojibwe Tribal Nation. Neurol Genet. 2024 ;10(2):e200130. doi: 10.1212/NXG...
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200164

Una iniciativa de:

Cercador

Neurology® Genetics. vol. 10 n. 3

Neurology® Genetics. vol. 10 n. 3

En aquest número

Acknowledgment to Reviewers

Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.

Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology.

Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy.

RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls.

ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.

Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.

Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity.

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.

Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis.

Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia.

Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.

TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy.

A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.

Correction

Correction for: Preprint Server Information.

Correction

Correction & Replacements

Trobes a faltar informació? Fes-nos arribar els teus suggeriments!