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Case Report

31 May 2024

Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia

Nihel Ammous-Boukhris

, 6 more and

Raja Mokdad-Gargouri

373 views

0 citations

Case Report

20 March 2024

Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease

Carmela Romano

, 9 more and

Giovanni Ristori

641 views

0 citations

Case Report

28 February 2024

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot–Marie–Tooth disease

Gao-Hui Cao

, 5 more and

Lu-Lu Tang

588 views

0 citations

Case Report

06 February 2024

Familial hemiplegic migraine type 2: a case report of an adolescent with ATP1A2 mutation

Hui Zhang

, 2 more and

Sen Yang

902 views

1 citations

Case Report

24 January 2024

A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review

Siyuan Jing

, 4 more and

Yifei Li

694 views

0 citations

Case Report

12 December 2023

Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report

Miao Sun

and

Yingjie Dai

999 views

1 citations

Case Report

20 October 2023

Case report: Analysis of a gene variant and prenatal diagnosis in a family with megalencephalic leukoencephalopathy with subcortical cysts

Xi Chen

, 4 more and

Xuemei Zhang

2,148 views

0 citations

Case Report

22 September 2023

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient

Qihua Chen

, 2 more and

Lixia Qin

985 views

0 citations

Case Report

14 September 2023

A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant

Jamal Al Ali

, 4 more and

Kaitlin Seibert

1,424 views

0 citations

Case Report

13 September 2023

SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review

Haining Li

, 4 more and

Zhenhai Wang

1,110 views

0 citations

Case Report

26 July 2023

Ataxia-telangiectasia in China: a case report of a novel ATM variant and literature review

Li Shao

, 4 more and

Jing Zhang

1,054 views

1 citations

Case Report

20 July 2023

Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

Sara Hafdaoui

, 4 more and

Stefano D'Arrigo

848 views

1 citations

Case Report

15 June 2023

Older adult-onset Alexander disease with atypical clinicoradiological features: a case report

You-Ri Kang

, 5 more and

Myeong-Kyu Kim

1,939 views

1 citations

Case Report

01 June 2023

Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk

Eulalia Sousa

, 3 more and

Cláudia Falcão Reis

1,838 views

0 citations

Case Report

Frontiers in Neurology

Case report: Mutations in DNAJC30 causing autosomal recessive Leber Hereditary Optic Neuropathy are common amongst Eastern European individuals.

Toby Charles Major

, 8 more and

Rita Horvath

977 views

0 citations

Case Report

Frontiers in Neurology

Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

Ida Cursio

, 6 more and

Carla Marini

1,299 views

1 citations

Case Report

Frontiers in Neurology

FGG c.952G>A variant causes congenital dysfibrinogenemia characterized by recurrent cerebral infarction: a case report

Anna Ying

, 8 more and

Feng Wang

930 views

0 citations

Case Report

Frontiers in Neurology

Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping

Jieni Jiang

, 6 more and

Xuemei Zhang

1,137 views

0 citations

Case Report

Frontiers in Neurology

A novel variant of PLA2G6 gene related early-onset parkinsonism：a case report and literature review

Dapeng Cai

, 3 more and

Kang Du

479 views

0 citations

Case Report

Frontiers in Neurology

Case report: Association of PTEN-gene variant and an aggressive case of multiple dAVF

Glaucia Suzanna Jong-A-Liem

, 6 more and

Feres Chaddad-Neto

576 views

0 citations

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Case Reports in Neurogenetics, volume III - 2023

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