Neurology® Genetics. vol. 5 n. 5

Neurology® Genetics. vol. 5 n. 5

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Neurology® Genetics

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2019

En aquest número

Article
A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors.
Autor/s:
Darvish H, Azcona LJ, Alehabib E, Jamali F, Tafakhori A, Ranji-Burachaloo S, Jen JC, Paisán-Ruiz C.
Clinical/Scientific Notes
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 5
http://ng.neurology.org/content/5/5/e356.extract
Article
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Autor/s:
Rubegni A, Malandrini A, Dosi C, Astrea G, Baldacci J, Battisti C, Bertocci G, Donati MA, Dotti MT, Federico A, Giannini F, Grosso S, Guerrini R, Lenzi S, Maioli MA, Melani F, Mercuri E, Sacchini M, Salvatore S, Siciliano G, Tolomeo D, Tonin P, Volpi N, Santorelli FM, Cassandrini D.
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 5
http://ng.neurology.org/content/5/5/e352.abstract
Article
Impaired kidney structure and function in spinal muscular atrophy.
Autor/s:
Nery FC, Siranosian JJ, Rosales I, Deguise MO, Sharma A, Muhtaseb AW, Nwe P, Johnstone AJ, Zhang R, Fatouraei M, Huemer N, Alves CRR, Kothary R, Swoboda KJ.
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 5
http://ng.neurology.org/content/5/5/e353.abstract
Article
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation
Autor/s:
Xiao C, Binkley EM, Rexach J, Knight-Johnson A, Khemani P, Fogel BL, Das S, Stone EM, Gomez CM
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 5
http://ng.neurology.org/content/5/5/e357.abstract
Article
Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.
Autor/s:
Park J, Damrauer SM, Baras A, Reid JG, Overton JD, Gonzalez-Alegre P.
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 5
http://ng.neurology.org/content/5/5/e358.abstract
Article
Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia
Autor/s:
Mahjoub A, Cihlarova Z, Tétreault M, MacNeil L, Sondheimer N, Caldecott KW, Hanzlikova H, Yoon G and on behalf of the Care4Rare Canada Consortium
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 5
http://ng.neurology.org/content/5/5/e359.abstract
Article
Fatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplant
Autor/s:
Puffer RC, Spinner RJ, Bi H, Sharma R, Wang Y, Theis JD, McPhail ED, Poterucha JJ, Niu Z, Klein CJ.
Clinical/Scientific Notes
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 5
http://ng.neurology.org/content/5/5/e351.extract
Article
Enhancement of cranial nerves, conus medullaris, and nerve roots in POLG mitochondrial disease
Autor/s:
Bayat M, Yavarian Y, Bayat A, Christensen J.
Clinical/Scientific Notes
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 5
http://ng.neurology.org/content/5/5/e360.extract
Article
Digital necrosis in an infant with severe spinal muscular atrophy
Autor/s:
Carrasco D, Magoulas P, Scull JC, Jarrell JA, Lalani SR, Wangler MF
Clinical/Scientific Notes
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 5
http://ng.neurology.org/content/5/5/e361.extract
Article
Correction
Correction for: Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS. Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. Neurol Genet...
Any publicació:
2019
Número de revista:
Neurology® Genetics. vol. 5 n. 5
http://ng.neurology.org/content/5/5/e362.extract

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Neurology® Genetics. vol. 5 n. 5

Neurology® Genetics. vol. 5 n. 5

En aquest número

A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors.

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Impaired kidney structure and function in spinal muscular atrophy.

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.

Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

Fatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplant

Enhancement of cranial nerves, conus medullaris, and nerve roots in POLG mitochondrial disease

Digital necrosis in an infant with severe spinal muscular atrophy

Correction

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