Literature DB >> 32775520

A Novel Phenotype Associated with CaSR-Related Familial Brain Calcifications.

Sara Scannapieco1, Marina Picillo1, Luigi Del Gaudio2, Paolo Barone1, Roberto Erro1.   

Abstract

Entities:  

Keywords:  autosomal dominant hypocalcemia, PFBC, calcium, Fahr disease, IBGC

Year:  2020        PMID： 32775520      PMCID： PMC7396841          DOI： 10.1002/mdc3.13009

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  7 in total

Review 1.  Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

Authors:  Alessio Di Fonzo; Edoardo Monfrini; Roberto Erro
Journal:  Curr Neurol Neurosci Rep       Date:  2018-05-23       Impact factor: 5.081

2.  Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.

Authors:  Zhidong Cen; You Chen; Si Chen; Hong Wang; Dehao Yang; Hongmei Zhang; Hongwei Wu; Lebo Wang; Siyang Tang; Jia Ye; Jian Shen; Haotian Wang; Feng Fu; Xinhui Chen; Fei Xie; Peng Liu; Xuan Xu; Jianzhi Cao; Pan Cai; Qinqing Pan; Jieying Li; Wei Yang; Peng-Fei Shan; Yuezhou Li; Jing-Yu Liu; Baorong Zhang; Wei Luo
Journal:  Brain       Date:  2020-02-01       Impact factor: 13.501

Review 3.  Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.

Authors:  Amit Batla; Xin You Tai; Lucia Schottlaender; Robert Erro; Bettina Balint; Kailash P Bhatia
Journal:  Parkinsonism Relat Disord       Date:  2016-12-27       Impact factor: 4.891

4.  Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.

Authors:  Yabing Wang; Min Nie; Ou Wang; Yuepeng Li; Yan Jiang; Mei Li; Weibo Xia; Xiaoping Xing
Journal:  J Bone Miner Res       Date:  2019-11-13       Impact factor: 6.741

5.  A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

Authors:  S H Pearce; C Williamson; O Kifor; M Bai; M G Coulthard; M Davies; N Lewis-Barned; D McCredie; H Powell; P Kendall-Taylor; E M Brown; R V Thakker
Journal:  N Engl J Med       Date:  1996-10-10       Impact factor: 91.245

Review 6.  Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2.

Authors:  Kelly L Roszko; Ruiye D Bi; Michael Mannstadt
Journal:  Front Physiol       Date:  2016-10-18       Impact factor: 4.566

Review 7.  The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Authors:  Fadil M Hannan; Enikö Kallay; Wenhan Chang; Maria Luisa Brandi; Rajesh V Thakker
Journal:  Nat Rev Endocrinol       Date:  2018-12       Impact factor: 43.330
  7 in total
  2 in total

1.  Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.

Authors:  Marianne S Elston; Taha Elajnaf; Fadil M Hannan; Rajesh V Thakker
Journal:  J Endocr Soc       Date:  2022-03-18

Review 2.  Extracellular Calcium Receptor as a Target for Glutathione and Its Derivatives.

Authors:  Thomas Goralski; Jeffrey L Ram
Journal:  Int J Mol Sci       Date:  2022-01-10       Impact factor: 5.923
  2 in total

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