Familial schwannomatosis with a germline mutation of SMARCB1 in Japan

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2

(2014) Junya Nakajima et al.   JOURNAL OF HUMAN GENETICS

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

(2013) Scott R. Plotkin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

(2013) Arkadiusz Piotrowski et al.   NATURE GENETICS

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

(2012) Miriam J. Smith et al.   NEUROGENETICS

Clinical Features of Schwannomatosis: A Retrospective Analysis of 87 Patients

(2012) V. L. Merker et al.   ONCOLOGIST

Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up

(2010) Augusto Gonzalvo et al.   JOURNAL OF NEUROSURGERY

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

(2009) C Boyd et al.   CLINICAL GENETICS

Case of schwannomatosis

(2009) Yukako MURAKAMI et al.   JOURNAL OF DERMATOLOGY

Evidence of a four-hit mechanism involvingSMARCB1andNF2in schwannomatosis-associated schwannomas

(2007) Roberta Sestini et al.   HUMAN MUTATION