Publicacions científiques

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Autor/s:

van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD...

Report

Any publicació:

2022

Número de revista:

Brain vol. 145 n. 7

https://academic.oup.com/brain/article/145/7/2301/6563169

Article

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss.

Autor/s:

Višnjar T, Maver A, Writzl K, Maloku O, Bergant G, Jaklič H, Neubauer D, Fogolari F, Pečarič Meglič N, Peterlin B.

Any publicació:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 3

https://ng.neurology.org/content/8/3/e677

Article

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.

Autor/s:

Dahimene S, von Elsner L, Holling T, Mattas LS, Pickard J, Lessel D, Pilch KS, Kadurin I, Pratt WS, Zhulin IB, Dai H, Hempel M, Ruzhnikov MRZ, Kutsche K, Dolphin AC.

Any publicació:

2022

Número de revista:

Brain vol. 145 n. 8

https://academic.oup.com/brain/article/145/8/2721/6549667

Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy.

Autor/s:

Kuroha Y, Ishiguro T, Tada M, Hara N, Murayama K, Kawachi I, Kasuga K, Miyashita A, Hasegawa A, Takahashi T, Matsubara N, Onodera O, Kakita A, Koike R, Ikeuchi T.

Clinical/Scientific Notes

Any publicació:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 5

https://ng.neurology.org/content/8/5/e200030

Article

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

Autor/s:

von Elsner L, Chai G, Schneeberger PE, Harms FL, Casar C, Qi M, Alawi M, Abdel-Salam GMH, Zaki MS, Arndt F, Yang X, Stanley V, Hempel M, Gleeson JG, Kutsche K.

Any publicació:

2022

Número de revista:

Brain vol. 145 n. 4

https://academic.oup.com/brain/article-abstract/145/4/1551/6409855

Article

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

Autor/s:

Guasto A, Dubail J, Aguilera-Albesa S, Paganini C, Vanhulle C, Haouari W, Gorría-Redondo N, Aznal-Sainz E, Boddaert N, Planas-Serra L, Schlüter A, Vélez-Santamaría V, Verdura E, Bruneel A, Rossi A, Huber C, Pujol A, Cormier-Daire V.

Any publicació:

2022

Número de revista:

Brain vol. 145 n. 10

https://academic.oup.com/brain/article-abstract/145/10/3711/6553908

Article

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Autor/s:

Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S,...

Editor's Choice

Any publicació:

2022

Número de revista:

Brain vol. 145 n. 3

https://academic.oup.com/brain/article/145/3/909/6380942

Article

Bibliometric study of traumatic brain injury rehabilitation.

Autor/s:

Mojgani P, Jalali M, Keramatfar A.

Any publicació:

2022

Número de revista:

Neuropsychological Rehabilitation vol. 32 n. 1

https://www.tandfonline.com/doi/full/10.1080/09602011.2020.1796714

Article

Bicycling and Tricycling Road Race Performance in International Para-Cycling Events Between 2011 and 2019.

Autor/s:

Borg DN, Osborne JO, Tweedy SM, Liljedahl JB, Nooijen CFJ.

Para Sport & Paralympic Sport Section

Any publicació:

2022

Número de revista:

American Journal of Physical Medicine & Rehabilitation. vol. 101 n. 4

https://journals.lww.com/ajpmr/Fulltext/2022/04000/Bicycling_and_Tricycling_Road…

Article

Bidirectional Association Between Sleep Quality and Low Back Pain in Older Adults: A Longitudinal Observational Study.

Autor/s:

Morelhão PK, Gobbi C, Christofaro DGD, Damato TM, Grande GD, Frange C, Andersen ML, Tufik S, Franco MR, Pinto RZ.

Any publicació:

2022

Número de revista:

Archives of Physical Medicine and Rehabilitation. vol. 103 n. 8

https://www.archives-pmr.org/article/S0003-9993(21)01731-7/fulltext

Una iniciativa de:

Cercador

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss.

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.

Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Bibliometric study of traumatic brain injury rehabilitation.

Bicycling and Tricycling Road Race Performance in International Para-Cycling Events Between 2011 and 2019.

Bidirectional Association Between Sleep Quality and Low Back Pain in Older Adults: A Longitudinal Observational Study.

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